Stéphanie Bauché

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

Valérie Risson, Laetitia Mazelin, Mila Roceri et al. · The Journal of Cell Biology · 2009 · 368 citations · Full text

Muscle Function, Metabolic Remodeling, Cellular Physiology +21

MUSK, a new target for mutations causing congenital myasthenic syndrome

Frédéric Chevessier, Brice Faraut, Aymeric Ravel‐Chapuis et al. · Human Molecular Genetics · 2004 · 185 citations · Full text

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Caroline Huzé, Stéphanie Bauché, Pascale Richard et al. · The American Journal of Human Genetics · 2009 · 166 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression

Gaëlle Bruneteau, Thomas Simonet, Stéphanie Bauché et al. · Brain · 2013 · 132 citations

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 100 citations · Full text

Distal Muscle Weakness, Muscle Function, Agrin Mutations +18