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Plos One|March 6, 2014
Th1 response and systemic treg deficiency in inclusion body myositisYves Allenbach, Wahiba Chaara, Michelle Rosenzwajg, et al.
Scientific Reports|August 28, 2023
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndromeMarion Masingue, Olivia Cattaneo, Nicolas Wolff, et al.
Plos One|April 25, 2019
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disordersAbdallah Fayssoil, Lee S Nguyen, Adam Ogna, et al.
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.
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