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Neurology|January 14, 2018
Necrosis in anti-SRP+ and anti-HMGCR+myopathies: Role of autoantibodies and complementYves Allenbach, Louiza Arouche-Delaperche, Corinna Preusse, et al.Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, 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.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.Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.Neurology. Genetics|May 24, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVESWillem De Ridder, Isabelle Nelson, Bob Asselbergh, et al.European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.Neurology. Genetics|March 4, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg, et al.Pageof 21