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ResearchIn-Press PreviewGeneticsNeuroscience
Open Access | 
10.1172/JCI184474
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik,1 Stephanie Efthymiou,1 Christopher J. Record,1 Xinyu Miao,2 Renee Q. Lin,1 Jevin M. Parmar,3 Annarita Scardamaglia,1 Reza Maroofian,1 Simon A. Lowe,4 Gabriel N. Aughey,4 Abigail D. Wilson,4 Riccardo Curro,1 Ricardo P. Schnekenberg,1 Shahryar Alavi,1 Leif Leclaire,2 Yi He,2 Kristina Zhelcheska,1 Yohanns Bellaiche,6 Isabelle Gaugué,6 Mariola Skorupinska,1 Liedewei Van de Vondel,7 Sahar I. Da'as,8 Valentina Turchetti,1 Serdal Güngör,9 Gavin V. Monahan,3 Ehsan Ghayoor Karimiani,1 Yalda Jamshidi,10 Phillipa J. Lamont,11 Camila Armirola-Ricaurte,12 Haluk Topaloglu,13 Albena Jordanova,12 Mashaya Zaman,14 Selina H. Banu,14 Wilson Marques,15 Pedro J. Tomaselli,16 Busra Aynekin,1 Ali Cansu,17 Huseyin Per,18 Ayten Güleç,18 Javeria Raza Alvi,19 Tipu Sultan,19 Arif Khan,20 Giovanni Zifarelli,21 Shahnaz Ibrahim,22 Grazia M. S. Mancini,23 M.M. Motazacker,24 Esther Brusse,23 Vincenzo Lupo,25 Teresa Sevilla,26 A. Nazli Başak,27 Seyma Tekgul,27 Robin J. Palvadeau,27 Jonathan Baets,7 Yesim Parman,28 Arman Çakar,28 Rita Horvath,29 Tobias B. Haack,30 Jan-Hendrik Stahl,31 Kathrin Grundmann-Hauser,30 Joohyun Park,30 Stephan Zuchner,32 Nigel G. Laing,33 Lindsay A. Wilson,1 Alexander M. Rossor,34 James Polke,35 Fernanda Barbosa Figueiredo,36 André Pessoa,37 Fernando Kok,36 Antônio Rodrigues Coimbra-Neto,39 Marcondes C. Franca Jr,39 Gianina Ravenscroft,3 Sherifa A. Hamed,40 Wendy K. Chung,41 Alan M. Pittman,10 Daniel P. Osborn,10 Michael Hanna,1 Andrea Cortese,1 Mary M. Reilly,1 James E.C. Jepson,4 Nathalie Lamarche-Vane,2 and Henry Houlden1
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Dominik, N. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Efthymiou, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Record, C. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Miao, X. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Lin, R. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Parmar, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Maroofian, R. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Lowe, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Aughey, G. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Wilson, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Curro, R. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Schnekenberg, R. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Alavi, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Leclaire, L. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by He, Y. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Zhelcheska, K. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Bellaiche, Y. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Gaugué, I. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Skorupinska, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Van de Vondel, L. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by
Da'as, S.
in:
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Turchetti, V. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Güngör, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Monahan, G. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Ghayoor Karimiani, E. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by
Jamshidi, Y.
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Lamont, P. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Armirola-Ricaurte, C. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Topaloglu, H. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Jordanova, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Zaman, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Banu, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Marques, W. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Tomaselli, P. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Aynekin, B. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Cansu, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Per, H. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Güleç, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Alvi, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Sultan, T. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Khan, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Zifarelli, G. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Ibrahim, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Mancini, G. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Motazacker, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Brusse, E. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Lupo, V. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Sevilla, T. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Başak, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Tekgul, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Palvadeau, R. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Parman, Y. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Çakar, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Haack, T. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Stahl, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Grundmann-Hauser, K. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Park, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Zuchner, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Laing, N. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Wilson, L. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Rossor, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Polke, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Figueiredo, F. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Pessoa, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Kok, F. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Coimbra-Neto, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Franca Jr, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Ravenscroft, G. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Hamed, S. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Pittman, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Hanna, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Cortese, A. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Reilly, M. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Jepson, J. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
Find articles by Lamarche-Vane, N. in: PubMed | Google Scholar
1Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom
2Department of Anatomy and Cell Biology, McGill University, Montréal, Canada
3Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
4Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom
5Department of Anatomy and Cell Biology, McGill University, Montreal, Canada
6Genetics and Developmental Biology, Sorbonne Université, Paris, France
7Translational Neurosciences, University of Antwerp, Antwerp, Belgium
8Department of Human Genetics, Sidra Medicine, Doha, Qatar
9Department of Pediatric Neurology, Inonu University, Malatya, Turkey
10Molecular and Clinical Sciences Institute, University of London, London, United Kingdom
11Molecular Neurogenetics, Centre for Medical Research, University of Western Australia, Harry Perkins, Perth, Australia
12VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
13Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
14Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Bangladesh
15Department of Neurosciences, University of São Paulo, Sao Paulo, Brazil
16Department of Neurosciences and Behaviour Sciences, University of São Paulo, Sao Paulo, Brazil
17Department of Pediatric Neurology, Karadeniz Technical University, Trabzon, Turkey
18Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey
19Children's Hospital & the Institute of Child Health, Lahore, Pakistan
20Pediatric Neurology, Neuropedia Hospital, Dubai, United Arab Emirates
21Centogene GmbH, Rostock, Germany
22Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
23Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, Netherlands
24Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
25Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain
26Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain
27Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, İstanbul, Turkey
28Department of Neurology, Istanbul University, Istanbul, Turkey
29Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
30Center for Rare Disease, University of Tübingen, Tübingen, Germany
31Department of Epileptology, University of Tübingen, Tübingen, Germany
32John P. Hussman Institute for Human Genomics, University of Miami, Miami, United States of America
33Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Australia
34Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
35Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom
36Mendelics Genomic Analysis, São Paulo, Brazil
37UNIVERSIDADE FEDERAL DO CEARÁ - UFC AND Hospital Infantil Albert Sabin, Fortaleza, Brazil., Fortaleza, Brazil
38Mendelics Genomic Analysis, Sao Paulo, Brazil
39Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil
40Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt
41Department of Pediatrics, Harvard Medical School, Boston, United States of America
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Published October 14, 2025 - More info
Copyright © 2025, Dominik et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)