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Neuron|August 1, 1997
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3H L Paulson, M K Perez, Y Trottier, et al.American Journal of Human Genetics|January 1, 1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg, S Kemp, C O Sarde, et al.Annals of Neurology|December 10, 1997
Differential distribution of the normal and mutated forms of huntingtin in the human brainI Gourfinkel-An, G Cancel, Y Trottier, et al.Biochemical and Biophysical Research Communications|July 29, 1994
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsS Kemp, M J Ligtenberg, B M van Geel, et al.Innovations (Philadelphia, Pa.)|May 25, 2023
Feasibility of Robotic Mitral Valve Repair Using Barbed Nonabsorbable Sutures: A Preliminary Single-Center ExperienceKellen J Round, Colin C Yost, Jake L Rosen, et al.Nature Genetics|November 1, 1996
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsG Imbert, F Saudou, G Yvert, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 1, 1997
[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands]M Cossée, C Moutou, V Biancalana, et al.Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.Human Molecular Genetics|September 25, 1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesV Campuzano, L Montermini, Y Lutz, et al.Nature Genetics|September 1, 1997
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionG David, N Abbas, G Stevanin, et al.Pageof 31