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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.
Human Molecular Genetics|February 4, 2020
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestationsNicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
Plos One|April 19, 2016
Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMAMohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, et al.
Journal of Neuromuscular Diseases|December 28, 2017
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular DisordersAbdallah Fayssoil, Anthony Behin, Adam Ogna, 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.
Acta Neuropathologica Communications|July 16, 2017
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal deathArnaud Jacquier, Cécile Delorme, Edwige Belotti, 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.
Plos One|April 28, 2025
Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9Susanne S Rauh, Pierre-Yves Baudin, Tanya Stojkovic, et al.
European Radiology|November 21, 2020
Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseasesHarmen Reyngoudt, Benjamin Marty, Jean-Marc Boisserie, et al.
Plos One|April 28, 2016
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2DAbdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, et al.
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