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Rheumatology (Oxford, England)|February 24, 2018
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositisJessie Aouizerate, Marie De Antonio, Brigitte Bader-Meunier, et al.
Frontiers in Pediatrics|January 9, 2023
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1Sophie Boursange, Marco Araneda, Caroline Stalens, et al.
Scientific Reports|August 28, 2023
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndromeMarion Masingue, Olivia Cattaneo, Nicolas Wolff, et al.
Rheumatology (Oxford, England)|February 12, 2021
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective studyTom Le Voyer, Cyril Gitiaux, François-Jérôme Authier, et al.
Neurology|June 24, 2022
Evidence-Based, Implementable Motor Rehabilitation Guidelines for Individuals With Cerebral PalsyAnthony Demont, Michel Gedda, Céline Lager, et al.
Neurology. Genetics|November 2, 2020
Congenital immobility and stiffness related to biallelic ATAD1 variantsRoxane Bunod, Diane Doummar, Sandra Whalen, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
JAMA Network Open|October 8, 2025
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1Juliette Ropars, Claude Cances, Rocio Garcia-Uzquiano, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
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