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Neurology. Genetics|March 4, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg, et al.
Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.
Human Genetics|May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 28, 2025
Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)Sarah Barrière, Véronique Manel, Christine Barnerias, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or typeFrédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
Orphanet Journal of Rare Diseases|June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational studyFrédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Orphanet Journal of Rare Diseases|September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatmentIsabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
Rheumatology (Oxford, England)|October 17, 2025
IFN-α levels correlate with muscle disease activity only in juvenile dermatomyositis patients with anti-MDA5+ autoantibodiesThomas R J Moreau, Vincent Bondet, Saskia R Veldkamp, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
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