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Neurology|April 12, 2015
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2EClaudio Semplicini, John Vissing, Julia R Dahlqvist, et al.
Acta Neuropathologica|December 17, 2008
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathyJorge A Bevilacqua, Marc Bitoun, Valérie Biancalana, et al.
Neurology|December 15, 2015
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysisKarima Habbout, Hugo Poulin, François Rivier, et al.
Neuromuscular Disorders : NMD|September 10, 2013
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndromeStéphanie Bauché, Delphine Boerio, Claire-Sophie Davoine, et al.
Trials|January 20, 2018
The benefits and tolerance of exercise in myasthenia gravis (MGEX): study protocol for a randomised controlled trialSimone Birnbaum, Jean-Yves Hogrel, Raphael Porcher, et al.
Archives of Cardiovascular Diseases|October 22, 2013
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, et al.
Neuromuscular Disorders : NMD|December 16, 2022
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromesTanya Stojkovic, Marion Masingue, Helène Turmel, et al.
Arthritis and Rheumatism|March 15, 2011
Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathyOlivier Benveniste, Laurent Drouot, Fabienne Jouen, et al.
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.
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