Jean‐Paul Leroy

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +13

MUSK, a new target for mutations causing congenital myasthenic syndrome

Frédéric Chevessier, Brice Faraut, Aymeric Ravel‐Chapuis et al. · Human Molecular Genetics · 2004 · 188 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The origin of tubular aggregates in human myopathies

Frédéric Chevessier, Stéphanie Bauché, Jean‐Paul Leroy et al. · The Journal of Pathology · 2005 · 94 citations

Medicine, Pathobiology, Pathology +16

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Pascal Laforêt, Pascale Richard, Mina Ait Saïd et al. · Neuromuscular Disorders · 2006 · 61 citations

Life Sciences, Cardiology, Genetics +10

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ammar, Payam Soltanzadeh, Stéphanie Bauché et al. · PLoS ONE · 2013 · 48 citations · Full text

Medicine, Genetics, Neurology +17