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Orphanet Journal of Rare Diseases|December 19, 2014
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1AShahram Attarian, Jean-Michel Vallat, Laurent Magy, et al.Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.Journal of Cachexia, Sarcopenia and Muscle|September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathyUrsula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.Journal of Neuromuscular Diseases|July 28, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>GRocio Nur Villar-Quiles, A Reghan Foley, Corinne Metay, et al.Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, 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.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.Journal of Neuromuscular Diseases|November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic reviewBeatrice Labella, Guy Brochier, Maud Beuvin, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, 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.Pageof 25