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Nature Genetics|October 18, 2005
Mutations in dynamin 2 cause dominant centronuclear myopathyMarc Bitoun, Svetlana Maugenre, Pierre-Yves Jeannet, et al.Molecular Genetics and Metabolism|September 11, 2017
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIaValérie Decostre, Pascal Laforêt, Marie De Antonio, et al.Journal of Neuromuscular Diseases|December 28, 2017
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular DisordersAbdallah Fayssoil, Anthony Behin, Adam Ogna, et al.Circulation. Cardiovascular Genetics|June 15, 2017
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart RegistryCaroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, et al.Nature|August 10, 2007
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymusMatthieu Giraud, Richard Taubert, Claire Vandiedonck, et al.Muscle & Nerve|February 7, 2017
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French versionAntoine Dany, Amandine Rapin, Brice Lavrard, et al.Genetic Testing and Molecular Biomarkers|June 21, 2018
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French CohortAlzira Alves de Siqueira Carvalho, Emmanuele Lacene, Guy Brochier, et al.European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.Brain Communications|May 25, 2022
Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1Alexandre Morin, Aurelie Funkiewiez, Alexandre Routier, et al.Human Mutation|January 16, 2007
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathiesHarald Bär, Bertrand Goudeau, Sarah Wälde, et al.Pageof 26