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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.
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.
Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
Journal of Medical Genetics|January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 familiesGeneviève Baujat, Céline Huber, Joyce El Hokayem, et al.
Neuromuscular Disorders : NMD|March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiencyPascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.
Scientific Reports|June 17, 2024
Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histologyFrédérique Truffault, Ludivine Auger, Nadine Dragin, et al.
Neuromuscular Disorders : NMD|December 17, 2013
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophiesLinda L Bachinski, Keith A Baggerly, Valerie L Neubauer, et al.
Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
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