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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.Human Gene Therapy|December 22, 2004
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophyNorma B Romero, Serge Braun, Olivier Benveniste, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.Neurology|April 14, 2019
FSHD1 and FSHD2 form a disease continuumSabrina Sacconi, Audrey Briand-Suleau, Marilyn Gros, et al.Brain : a Journal of Neurology|January 14, 2012
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2CSerge Herson, Faycal Hentati, Aude Rigolet, et al.European Journal of Neurology|March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathyGorka Fernández-Eulate, Giorgia Querin, Ursula Moore, 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 Lancet. Rheumatology|January 26, 2024
Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trialOlivier Benveniste, Jean-Yves Hogrel, Lisa Belin, et al.Journal of Neuropathology and Experimental Neurology|October 27, 2018
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related MyopathiesRainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, et al.Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.Pageof 21