Marie‐Pierre Moizard

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al. · The American Journal of Human Genetics · 2004 · 760 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 197 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra et al. · Human Mutation · 2007 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

Marie‐Pierre Moizard, C. Billard, Annick Toutain et al. · American Journal of Medical Genetics · 1998 · 119 citations

Medicine, Genetics, Molecular Genetics +17