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Handbook of Clinical Neurology|April 30, 2013
Pathophysiology of cerebral palsyStéphane Marret, Catherine Vanhulle, Annie LaquerriereNeuromuscular Disorders : NMD|February 4, 2020
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 geneFlorent Marguet, John Rendu, Catherine Vanhulle, et al.International Journal of Molecular Sciences|January 8, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase DeficiencyStephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, et al.American Journal of Medical Genetics. Part A|February 3, 2016
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case reportFlorent Marguet, Annie Laquerrière, Alice Goldenberg, et al.Pediatric Radiology|June 22, 2018
Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysisAbderrahmane Hedjoudje, Gaël Nicolas, Alice Goldenberg, et al.Scientific Reports|January 22, 2021
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imagingIvana Dabaj, Justine Ferey, Florent Marguet, et al.Brain : a Journal of Neurology|March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyAlessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.Journal of Neuromuscular Diseases|November 19, 2016
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe PhenotypeLaurent Servais, Marie Montus, Caroline Le Guiner, et al.Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.Pageof 2