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Plos One|January 18, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myastheniaAsma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, et al.Human Molecular Genetics|October 22, 2004
MUSK, a new target for mutations causing congenital myasthenic syndromeFrédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.Neurology(R) Neuroimmunology & Neuroinflammation|December 15, 2022
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 AutoantibodiesJuliette Svahn, Laurent Coudert, Nathalie Streichenberger, et al.American Journal of Human Genetics|July 28, 2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse functionCaroline Huzé, Stéphanie Bauché, Pascale Richard, et al.Acta Neuropathologica|August 10, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneuronsArnaud Jacquier, Valérie Risson, Thomas Simonet, 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.Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.Journal of Medicinal Chemistry|July 1, 2024
Discovery of BI-9508, a Brain-Penetrant GPR88-Receptor-Agonist Tool Compound for <i>In Vivo</i> Mouse StudiesMickael Fer, Camille Amalric, Roberto Arban, et al.Pageof 9