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 · 653 citations

Medicine, Genetics, Neurology +14

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 · 351 citations

Life Sciences, Genetics, Neuroscience +17

Myoblast transfer in duchenne muscular dystrophy

George Karpati, Djordje Ajdukovic, Douglas L. Arnold et al. · Annals of Neurology · 1993 · 303 citations

Medicine, Surgery, Cell Therapy +11

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 · 271 citations

Life Sciences, Genetics, Molecular Genetics +13

Neurologic Crises in Hereditary Tyrosinemia

Grant A. Mitchell, Jean Larochelle, Marie Lambert et al. · New England Journal of Medicine · 1990 · 235 citations

Medicine, Neurology, Pediatrics +16