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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.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, 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.
Orphanet Journal of Rare Diseases|March 12, 2025
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyIphigénie Cavadias, Magali Viaud, Marie Falampin, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
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