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Neuromuscular Disorders : NMD|February 13, 2023
Respiratory function and sleep in children with myotonic dystrophy type 1Marie Cheminelle, Marie-Christine Nougues, Arnaud Isapof, et al.Muscle & Nerve|July 1, 2026
AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological MechanismsRocio-Nur Villar-Quiles, Damien Sternberg, Marie-Christine Nougues, et al.Journal of Inherited Metabolic Disease|November 25, 2010
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type IbAlix Mollet Boudjemline, Arnaud Isapof, Jean-Bernard Witas, et al.Pediatric Nephrology (Berlin, Germany)|January 22, 2010
Tacrolimus nephrotoxicity: beware of the association of diarrhea, drug interaction and pharmacogeneticsSandrine Leroy, Arnaud Isapof, Sonia Fargue, et al.Journal of the Peripheral Nervous System : JPNS|May 20, 2024
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French familyJulian Theuriet, Sheila Marte, Arnaud Isapof, et al.Prenatal Diagnosis|March 21, 2012
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?)Marie-Laure Moutard, Virginie Kieffer, Josué Feingold, et al.American Journal of Medical Genetics. Part A|November 14, 2017
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndromeMathias Schwartz, Damien Sternberg, Sandra Whalen, et al.Journal of Neurology|November 11, 2023
Clinical and genetic features of patients suffering from CMT4JSadia Beloribi-Djefaflia, Raul Juntas Morales, Farzad Fatehi, et al.Medecine Sciences : M/S|November 18, 2024
[Benefit of treatment with rituximab in autoimmune myasthenia gravis in children]Agathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.Neurology|March 22, 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French ExperienceAgathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.Pageof 5