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Annals of Clinical and Translational Neurology|April 25, 2015
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patientsGaëlle Bruneteau, Stéphanie Bauché, Jose Luis Gonzalez de Aguilar, et al.Brain : a Journal of Neurology|June 22, 2014
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophySophie Nicole, Amina Chaouch, Torberg Torbergsen, et al.Journal of Neurology|July 17, 2017
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathyStéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, et al.The Journal of Cell Biology|December 17, 2009
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathyValérie Risson, Laetitia Mazelin, Mila Roceri, et al.Pageof 3