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Muscle & Nerve|March 4, 2017
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencingMathieu Cerino, Svetlana Gorokhova, Pascal Laforet, et al.
Neurology|January 19, 2018
Hearing impairment in patients with myotonic dystrophy type 2Judith van Vliet, Alide A Tieleman, Baziel G M van Engelen, et al.
Annals of Neurology|February 22, 2017
Recessive MYPN mutations cause cap myopathy with occasional nemaline rodsXavière Lornage, Edoardo Malfatti, Chrystel Chéraud, et al.
Brain : a Journal of Neurology|June 25, 2004
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24Isabelle Le Ber, Maria Martinez, Dominique Campion, et al.
Journal of Neuromuscular Diseases|November 19, 2016
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic CounsellingPascale Richard, Capucine Trollet, Teresa Gidaro, et al.
FEBS Letters|June 28, 2005
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathiesChristoph S Clemen, Dirk Fischer, Udo Roth, et al.
Neuropathology and Applied Neurobiology|December 21, 2023
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylationLaura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, et al.
European Journal of Neurology|May 11, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohortEdouard Berling, Camille Verebi, Nadia Venturelli, et al.
Arthritis Research & Therapy|February 4, 2014
Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodiesLaurent Drouot, Yves Allenbach, Fabienne Jouen, et al.
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
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