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Documents disponibles écrits par cet auteur (6)
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Cerino M, Campana-Salort E, Salvi A, et al.
Neuropathology and applied neurobiology, 2020
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes
Zenagui R, Lacourt D, Pegeot H, et al.
The Journal of molecular diagnostics : JMD, 2018
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
Habbout K, Poulin H, Rivier F, et al.
Neurology, 2016, 86, 2, p 161
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study
Dierick I, Baets J, Irobi J, et al.
Brain, 2008, 131, 5, p. 1217-1227
