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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.Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.Journal of Neuromuscular Diseases|November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic reviewBeatrice Labella, Guy Brochier, Maud Beuvin, et al.Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.Medicine|May 7, 2014
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statinYves Allenbach, Laurent Drouot, Aude Rigolet, et al.Acta Neuropathologica|July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesValérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.Brain : a Journal of Neurology|June 23, 2026
Relative frequencies of muscle specific kinase antibody myasthenia in 46 centres worldwideAngela Vincent, Rehab Badi, Nina Barisic, et al.American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.Pageof 26