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Neuromuscular Disorders : NMD|May 1, 1994
Expression of a recombinant dystrophin in mdx mice using adenovirus vectorH S Alameddine, B Quantin, A Cartaud, et al.
The Journal of Clinical Investigation|August 1, 1994
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy geneP Fanen, S Guidoux, C O Sarde, et al.
American Journal of Human Genetics|January 1, 1990
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15A Hanauer, M Chery, R Fujita, et al.
Human Molecular Genetics|September 26, 2000
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathwayF Blondeau, J Laporte, S Bodin, et al.
Revue Neurologique|August 14, 2013
Adult centronuclear myopathies: A hospital-based studyA Echaniz-Laguna, V Biancalana, J Böhm, et al.
Genomics|September 1, 1993
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2)I Silveira, A Manaia, J Melki, et al.
Genomics|July 1, 1988
Isolation and characterization of a family of sequences dispersed on the human X chromosomeB Bardoni, S Guioli, E Raimondi, et al.
Genomics|November 1, 1989
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locusA Vincent, N Dahl, I Oberlé, et al.
Ophthalmic Genetics|October 19, 2011
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencingK Aliferis, S Hellé, G Gyapay, et al.
Biochimie|January 1, 1993
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesisP Aubourg, J Mosser, A M Douar, et al.
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