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Molecular Therapy : the Journal of the American Society of Gene Therapy|May 1, 2025
BIN1 gene replacement reverses BIN1-related centronuclear myopathyJacqueline Ji, Quentin Giraud, Nadège Diedhiou, et al.Cellular and Molecular Life Sciences : CMLS|December 3, 2024
Potential compensatory mechanisms preserving cardiac function in myotubular myopathyAlix Simon, Nadège Diedhiou, David Reiss, et al.Cells|November 27, 2024
A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in MiceLaura Pérez-Guàrdia, Emma Lafabrie, Nadège Diedhiou, et al.Disease Models & Mechanisms|September 11, 2023
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiencyNicole M Sayles, Jill S Napierala, Josef Anrather, et al.Brain : a Journal of Neurology|July 3, 2025
Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathyFoteini Moschovaki-Filippidou, Juliana de Carvalho Neves, Nadège Diedhiou, et al.Biorxiv : the Preprint Server for Biology|September 29, 2025
Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe-S Cluster AssemblyValentine Mosbach, Nunziata Maio, Nadège Diedhiou, et al.Cell Death and Differentiation|August 7, 2026
Partial bypass of frataxin deficiency by ISCU M141I restores cytosolic and nuclear Fe-S cluster assemblyValentine Mosbach, Nunziata Maio, Lucie Hermet, et al.Proceedings of the National Academy of Sciences of the United States of America|February 26, 2022
BIN1 modulation in vivo rescues dynamin-related myopathyValentina Maria Lionello, Christine Kretz, Evelina Edelweiss, et al.Journal of Neurology|March 5, 2021
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohortSolveig Montaut, Nadège Diedhiou, Pauline Fahrer, et al.Pageof 1