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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

P Fanen, … , M Goossens, P Aubourg

P Fanen, … , M Goossens, P Aubourg

Published August 1, 1994
Citation Information: J Clin Invest. 1994;94(2):516-520. https://doi.org/10.1172/JCI117363.

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Citations to this article (57)

Title and authors	Publication	Year
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Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy J Li, H Wang, Z He, X Wang, J Tang, D Huang	BMC neurology	2019
The many faces of peroxisomal disorders: Lessons from a large Arab cohort J Alshenaifi, N Ewida, S Anazi, HE Shamseldin, N Patel, S Maddirevula, T Al-Sheddi, R Alomar, E Alobeid, N Ibrahim, M Hashem, F Abdulwahab, M Jacob, A Alhashem, HI Alzaidan, MZ Seidahmed, N Alhashemi, R Rawashdeh, W Eyaid, ZN Al-Hassnan, Z Rahbeeni, A Alswaid, A Hadid, A Qari, DA Mohammed, HY Khashab, M Alfadhel, M Abanemai, R Sunbul, SA Tala, S Alkhalifi, T Alkharfi, M Abouelhoda, D Monies, NA Tassan, SH AlDubayan, W Kurdi, M Al-Owain, MJ Dasouki, AY Kentab, S Atyani, N Makhseed, E Faqeih, R Shaheen, FS Alkuraya	Clinical Genetics	2018
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study C Tran, J Patel, H Stacy, EG Mamak, H Faghfoury, J Raiman, JT Clarke, S Blaser, S Mercimek-Mahmutoglu	European Journal of Paediatric Neurology	2017
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation F Kallabi, E Ellouz, M Tabebi, GB Salah, N Kaabechi, L Keskes, C Triki, H Kamoun	Clinica Chimica Acta	2016
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy SS Chu, J Ye, HW Zhang, LS Han, WJ Qiu, XL Gao, XF Gu	World Journal of Pediatrics	2015
Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies CO Miranda, P Brites, MM Sousa, CA Teixeira	Cell Transplantation	2013
Methods in Enzymology JD Stone, AS Chervin, DH Aggen, DM Kranz	Protein Engineering for Therapeutics Part B	2012
Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy P Shukla, N Gupta, S Gulati, M Ghosh, S Vasisht, R Sharma, AK Gupta, V Kalra, M Kabra	Clinica Chimica Acta	2011
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family ER Valadares, AL Trindade, LR Oliveira, RR Arantes, MV Daker, BM Viana, VG Haase, LB Jardim, GC Lopes, AL Godard	Genetics and Molecular Research	2011
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleucodystrophy N Kumar, KK Taneja, A Kumar, D Nayar, B Taneja, S Aneja, M Behari, V Kalra, SK Bansal	Journal of Genetics	2010
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy. Kumar N, Taneja KK, Kumar A, Nayar D, Taneja B, Aneja S, Behari M, Kalra V, Bansal SK	Journal of Genetics	2010
T-cell receptor Vβ gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy F Picard, S Guidoux, T Martin, P Aubourg, JL Pasquali	Journal of Molecular Recognition	2005
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females MJ Coll, N Palau, C Camps, M Ruiz, T Pàmpols, M Girós	Clinical Genetics	2005
ABC Proteins PA Rea, R Sánchez-Fernández, S Chen, M Peng, M Klein, M Geisler, E Martinoia	ABC Proteins	2003
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene CP Guimarães, M Lemos, C Sá-Miranda, JE Azevedo	Molecular Genetics and Metabolism	2002
Identification of New Mutations in Israeli Patients with X-Linked Adrenoleukodystrophy S Neumann, A Topper, H Mandel, I Shapira, O Golan, E Gazit, R Loewenthal	Genetic Testing	2001
The ABC of ABCs: a phylogenetic and functional classification of ABC systems in living organisms E Dassa, P Bouige	Research in Microbiology	2001
Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure B Vaidya, S Pearce, P Kendall-Taylor	Clinical Endocrinology	2000
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy E Shapiro, W Krivit, L Lockman, I Jambaqué, C Peters, M Cowan, R Harris, S Blanche, P Bordigoni, D Loes, R Ziegler, M Crittenden, D Ris, B Berg, C Cox, H Moser, A Fischer, P Aubourg	The Lancet	2000
Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy CD Boehm, GR Cutting, MB Lachtermacher, HW Moser, SS Chong	Molecular Genetics and Metabolism	1999
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Geraghty M, Stetten G, Bergin JS, Pevsner J, Watkins PA	Neurochemical Research	1999
Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene A Holzinger, E Maier, S Stöckler-lpsiroglu, A Braun, AA Roscher	Clinical Genetics	1998
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy GC Korenke, E Krasemann, V Meier, W Beuche, DH Hunneman, F Hanefeld	Human Mutation	1998
Cystic Fibrosis: A Multiple Exocrinopathy Caused by Dysfunctions in a Multifunctional Transport Protein EM Schwiebert, DJ Benos, CM Fuller	The American Journal of Medicine	1998
Phospholipase D activity is altered in X-linked adrenoleukodystrophy heterozygous carriers, but not in hemizygous patients H E Logan, D M Byers, N D Ridgway, H W Cook	Biochimica et Biophysica Acta	1998
A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation H Osaka, H Sekiguchi, K Inoue, K Ikuta, Y Sakakihara, A Oka, H Onishi, T Miyakawa, K Suzuki, K Kosaka, S Matsuyama	Journal of Inherited Metabolic Disease	1998
Mutations in the adrenoleukodystrophy gene A Dodd, SA Rowland, SL Hawkes, MA Kennedy, DR Love	Human Mutation	1997
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients A Imamura, Y Suzuki, XQ Song, T Fukao, A Uchiyama, N Shimozawa, K Kamijo, T Hashimoto, T Orii, N Kondo	Clinical Genetics	1997
Expression of the Adrenoleukodystrophy Protein in the Human and Mouse Central Nervous System F Fouquet, JM Zhou, E Ralston, K Murray, F Troalen, E Magal, O Robain, M Dubois-Dalcq, P Aubourg	Neurobiology of Disease	1997
Very Long Chain Fatty Acid Analysis of Dried Blood Spots on Filter Paper to Screen for Adrenoleukodystrophy K Inoue, Y Suzuki, S Yajima, N Shimozawa, T Orii, N Kondo	Clinical chemistry	1997
Effects of exogenous hexacosanoic acid on biochemical myelin composition in weaning and post-weaning rats A Di Biase, C Avellino, F Pieroni, T Quaresima, A Grisolia, M Cappa, S Salvati	Neurochemical Research	1997
Clinical, biochemical and molecular genetic findings in a family with adrenomyeloneuropathy M Vorgerd, S Fuchs, E Conzelmann, M Tegenthoff, JP Malin	European Journal of Neurology	1996
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype GC Korenke, E Wilichowski, DH Hunneman, F Hanefeld, S Fuchs, E Krasemann, HG Doerr	Annals of Neurology	1996
Novel missense and frameshift mutations in the adrenoleukodystrophy gene H Ueyama, T Yamano, M Shimada, I Ohkubo	The Japanese Journal of Human Genetics	1996
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy EW Krasemann, V Meier, GC Korenke, DH Hunneman, F Hanefeld	Human Genetics	1996
X-Linked Adrenoleukodystrophy P Aubourg, JL Mandel	Annals of the New York Academy of Sciences	1996
Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein P Jorge, P Brites, A Nogueira, P Aubourg	Annals of the New York Academy of Sciences	1996
PRENATAL DIAGNOSIS OF ADRENOLEUKODYSTROPHY BY MEANS OF MUTATION ANALYSIS A Imamura, Y Suzuki, XQ Song, T Fukao, N Shimozawa, T Orii, N Kondo	Prenatal Diagnosis	1996
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection A Braun, S Kammerer, H Ambach, AA Roscher	Human Mutation	1996
Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene A Barceló, M Girós, VJ Albiach, J Vaquerizo, T Pàmpols, X Estivill	Human Mutation	1996
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy V Feigenbaum, G Lombard-Platet, S Guidoux, CO Sarde, JL Mandel, P Aubourg	The American Journal of Human Genetics	1996
Handbook of Biological Physics P Fafournoux, J Pouysségur	Handbook of Biological Physics	1996
Thérapie génique de l'adrénoleucodystrophie N Cartier, JM Micléa, C Chomienne, PF Bougnères, P Aubourg	Archives de Pédiatrie	1996
Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase A Uchiyama, T Aoyama, K Kamijo, Y Uchida, N Kondo, T Orii, T Hashimoto	The Journal of biological chemistry	1996
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. Krasemann EW, Meier V, Korenke GC, Hunneman DH, Hanefeld F	Human Genetics	1996
DNA diagnosis of X-linked adrenoleukodystrophy S Seneca, W Lissens	Journal of Inherited Metabolic Disease	1995
Localization of mRNAs for adrenoleukodystrophy and the 70 kDa peroxisomal (PMP70) proteins in the rat brain during post-natal development H Pollard, J Moreau, P Aubourg	Journal of Neuroscience Research	1995
Mutational analysis of patients with X-linked adrenoleukodystrophy F Kok, S Neumann, CO Sarde, S Zheng, KH Wu, HM Wei, J Bergin, PA Watkins, S Gould, G Sack, H Moser, JL Mandel, KD Smith	Human Mutation	1995
Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil HW Moser, JM Powers, KD Smith	Brain Pathology	1995
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts N Cartier, J Lopez, P Moullier, F Rocchiccioli, MO Rolland, P Jorge, J Mosser, JL Mandel, PF Bougnères, O Danos	Proceedings of the National Academy of Sciences	1995
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes A Braun, H Ambach, S Kammerer, B Rolinski, S Stöckler, W Rabl, J Gärtner, S Zierz, AA Roscher	The American Journal of Human Genetics	1995
Altered expression of ALDP in X-linked adrenoleukodystrophy PA Watkins, SJ Gould, MA Smith, LT Braiterman, HM Wei, F Kok, AB Moser, HW Moser, KD Smith	The American Journal of Human Genetics	1995
Molecular analysis of X-linked adrenoleukodystrophy patients T Yasutake, T Yamada, H Furuya, N Shinnoh, I Goto, T Kobayashi	Journal of the Neurological Sciences	1995
Diagnosis of human peroxisomal disorders F Roels, SD Bie, RB Schutgens, GT Besley		1995
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X	Human Genetics	1995
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene , J Thomas, H Sadoulet, ,	Mammalian Genome	1994

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