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Muscle & Nerve|October 23, 2020
Motor axonal neuropathy associated with GNE mutationsNicolae Grecu, Luisa Villa, Michele Cavalli, et al.Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.European Journal of Neurology|November 21, 2024
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort studyLuce Barbat du Closel, Nathalie Bonello-Palot, Emilien Delmont, et al.European Journal of Neurology|June 19, 2023
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth diseaseLuce Barbat du Closel, Nathalie Bonello-Palot, Yann Péréon, et al.European Journal of Neurology|September 4, 2025
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, et al.Orphanet Journal of Rare Diseases|January 24, 2024
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatmentsEmmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, et al.Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.European Journal of Neurology|March 21, 2023
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosagesNicolas Pons, Gorka Fernández-Eulate, Antoine Pegat, et al.Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.Pageof 2