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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.Genes|June 24, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean PopulationMathieu Cerino, Patricio González-Hormazábal, Mario Abaji, et al.American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.Journal of Neuromuscular Diseases|October 4, 2021
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International EffortAndre Megarbane, Sami Bizzari, Asha Deepthi, et al.European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.Journal of Medical Genetics|April 24, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophyKarine Nguyen, Natacha Broucqsault, Charlene Chaix, et al.Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.Pageof 9