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JCI Insight|March 23, 2026
DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulationCeline Bruge, Nathalie Bourg, Emilie Pellier, et al.Journal of Neurology|January 3, 2021
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal studyGiorgia Querin, Timothée Lenglet, Rabab Debs, et al.Clinical Genetics|July 26, 2022
HINT1 neuropathy: Expanding the genotype and phenotype spectrumVictor Morel, Emmanuelle Campana-Salort, Amandine Boyer, et al.European Journal of Neurology|May 11, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohortEdouard Berling, Camille Verebi, Nadia Venturelli, et al.European Journal of Human Genetics : EJHG|June 19, 2023
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencingJulian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, et al.Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.Journal of Neurology|July 2, 2024
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)Shahram Attarian, Sadia Beloribi-Djefaflia, Rafaelle Bernard, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 25, 2018
The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophyGiorgia Querin, Timothée Lenglet, Rabab Debs, et al.Brain : a Journal of Neurology|December 1, 2022
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathyArnaud Jacquier, Julian Theuriet, Fanny Fontaine, et al.European Journal of Neurology|April 16, 2026
Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic AmyotrophyJulian Theuriet, Isabelle Quadrio, Frédéric Fer, et al.Pageof 25