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Brain : a Journal of Neurology|September 19, 2019
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEPMathieu Kuchenbuch, Giulia Barcia, Nicole Chemaly, et al.Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, 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.Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.Journal of Inherited Metabolic Disease|March 13, 2026
Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French CohortAdélaïde Vissac, Eugénie Sarda, Charles-Joris Roux, et al.Plos One|February 3, 2015
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trialAndreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, et al.European Journal of Neurology|September 4, 2025
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, et al.Brain : a Journal of Neurology|June 8, 2018
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel geneJean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, et al.Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.The Journal of Pediatrics|May 16, 2022
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in ChildrenMelodie Aubart, Charles-Joris Roux, Chloé Durrleman, et al.Pageof 24