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European Journal of Neurology|April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort studyCéline Tard, Françoise Bouhour, Maud Michaud, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Neurology|August 6, 2008
Dehydroepiandrosterone for myotonic dystrophy type 1I Pénisson-Besnier, M Devillers, R Porcher, et al.
Medicina Clinica|June 28, 2026
Primary and secondary mesenteric panniculitis: A descriptive cohort study with clinical and prognostic implicationsMaría Pérez-Hickman-Estevan, Juan Manuel Núñez-Cruz, Carmen Seguí-Pérez, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 19, 2023
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective studyGuillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|July 25, 2020
Motor unit number index as an individual biomarker: Reference limits of intra-individual variability over time in healthy subjectsEmilien Delmont, François Wang, Jean-Pascal Lefaucheur, 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.
Autoimmunity Reviews|May 24, 2026
Subtype-specific mortality in idiopathic inflammatory myopathies: A hospital-based cohortAurore Larrauffie, Chloé Bost, Claire Barrier, 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.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
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