Michel Vanasse

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Patrick Cossette, Lidong Liu, Katéri Brisebois et al. · Nature Genetics · 2002 · 648 citations

Molecular Neuroscience, Genetic Disorder, Genetics +9

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Fadi F. Hamdan, Julie Gauthier, Yoichi Araki et al. · The American Journal of Human Genetics · 2011 · 348 citations

Genes Associated, Genetic Disorder, Genetics +8

Myoblast transfer in duchenne muscular dystrophy

George Karpati, Djordje Ajdukovic, Douglas L. Arnold et al. · Annals of Neurology · 1993 · 302 citations

Regenerative Medicine, Mechanobiology, Translational Medicine +15

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Laura Montermini, Andrea Richeter, Kenneth Morgan et al. · Annals of Neurology · 1997 · 270 citations

Genotype-phenotype Correlations, Clinical Disorders, Rare Diseases +15

Neurologic Crises in Hereditary Tyrosinemia

Grant A. Mitchell, Jean Larochelle, Marie Lambert et al. · New England Journal of Medicine · 1990 · 233 citations

Hereditary Tyrosinemia, Neurological Disorder, Genetic Disorder +10