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Movement Disorders : Official Journal of the Movement Disorder Society|June 22, 2010
Developmental and benign movement disorders in childhoodCecilia Bonnet, Agathe Roubertie, Diane Doummar, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 15, 2005
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiencyEmmanuel Roze, Marie Vidailhet, Nenad Blau, et al.Journal of Neurology|March 5, 2024
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypesUgo Sorrentino, Sylvia Boesch, Diane Doummar, et al.American Journal of Medical Genetics. Part A|April 29, 2010
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletionPascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, et al.ACS Chemical Neuroscience|March 22, 2014
Simultaneous determination of all forms of biopterin and neopterin in cerebrospinal fluidPierre Guibal, Nathalie Lévêque, Diane Doummar, et al.Case Reports in Psychiatry|June 20, 2017
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious BlindnessCora Cravero, Vincent Guinchat, Jean Xavier, et al.Orphanet Journal of Rare Diseases|May 1, 2016
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPDSylvie Picker-Minh, Cyril Mignot, Diane Doummar, et al.JIMD Reports|February 18, 2014
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhoodAnne Roubergue, Bertrand Philibert, Agnès Gautier, et al.ACS Omega|July 20, 2018
Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism DisordersAurélien Lo, Pierre Guibal, Diane Doummar, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, et al.Pageof 9