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BMC Pediatrics|November 16, 2023
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, et al.
Molecular Genetics and Metabolism|February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiencyMonique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 5, 2021
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distressMarie-Céline François-Heude, Ulrike Walther-Louvier, Caroline Espil-Taris, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, 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.
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.
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.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
European Journal of Neurology|May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational studyMarine Tardieu, Céline Cudejko, Aline Cano, et al.
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