Guy D’Anjou

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

Mutations in <i>SYNGAP1</i> in Autosomal Nonsyndromic Mental Retardation

Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman et al. · New England Journal of Medicine · 2009 · 342 citations · Full text

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

Kathryn J. Swoboda, Charles Scott, Sandra P. Reyna et al. · PLoS ONE · 2009 · 176 citations · Full text

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

Kathryn J. Swoboda, Charles Scott, Thomas O. Crawford et al. · PLoS ONE · 2010 · 170 citations · Full text

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Nathalie Goemans, Eugenio Mercuri, Hirofumi Komaki et al. · Neuromuscular Disorders · 2017 · 119 citations · Full text

Duchenne Muscular Dystrophy, Medicine, Clinical Trials +5