Jean‐Claude Kaplan

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Françoise Muscatelli, Tim M. Strom, Ann P. Walker et al. · Nature · 1994 · 767 citations

Adrenal Gland, Developmental Biology, Cell Division +10

Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping

Aurélie Goyenvalle, Adeline Vulin, Françoise Fougerousse et al. · Science · 2004 · 474 citations

Muscle Function, Developmental Biology, Skeletal Muscle +12

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds, France Leturcq, Valérie Allamand et al. · Cell · 1994 · 456 citations

Rare Diseases, Missense Mutations, Developmental Biology +9

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 · 364 citations · Full text

Genetics, Databases, Diagnosis +26

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

Tejvir S. Khurana, Simon C. Watkins, Philippe Chafey et al. · Neuromuscular Disorders · 1991 · 262 citations

Muscle Function, Developmental Biology, Skeletal Muscle +7