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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.BMJ Open|October 31, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationJuliette Bacquet, Tanya Stojkovic, Amandine Boyer, et al.Acta Neuropathologica|October 8, 2010
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesAnne Toussaint, Belinda Simone Cowling, Karim Hnia, et al.Journal of Neuromuscular Diseases|April 5, 2021
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular DystrophyCaroline Stalens, Leslie Motté, Anthony Béhin, 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.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.Nature Communications|December 2, 2017
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approachesVirginie Mariot, Romain Joubert, Christophe Hourdé, 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.European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.Pageof 25