Karen Gaudon

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

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

I. Wargon, Pascale Richard, Thierry Küntzer et al. · Neuromuscular Disorders · 2011 · 79 citations · Full text

Developmental Anomaly, Rare Diseases, Colq Mutations +8

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

Asma Ammar, François Petit, Nektaria Alexandri et al. · Journal of Neurology · 2009 · 78 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

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

Muscle Function, Genetics, Molecular Genetics +16