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European Journal of Neurology|October 6, 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficienciesMarie-Céline François-Heude, Elise Lebigot, Emmanuel Roze, et al.Neurology|March 4, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same timeEleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.Tremor and Other Hyperkinetic Movements (New York, N.Y.)|December 25, 2023
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and AdolescentsJulie Piarroux, Evgenia Dimopoulou, Guillaume Taieb, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 27, 2026
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole familyElise Yazbeck, Magalie Barth, Audrey Boyer, et al.Neurology|October 19, 2012
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineRobin Cloarec, Nadine Bruneau, Gabrielle Rudolf, et al.Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.Movement Disorders Clinical Practice|April 7, 2025
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/HyperekplexiaDiane Pina, Agathe Roubertie, Marie-Aude Spitz, et al.Journal of Inherited Metabolic Disease|May 20, 2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patientsSégolène Toquet, Marta Spodenkiewicz, Claire Douillard, et al.Neurology|January 21, 2022
Cerebellum Dysfunction in Patients With <i>PRRT2</i>-Related Paroxysmal DyskinesiaAsya Ekmen, Aurelie Meneret, Romain Valabregue, et al.Movement Disorders Clinical Practice|June 12, 2025
ADCY5-Mosaic Variants: A Diagnosis Not to Be MissedAlice Innocenti, Emmanuel Roze, Florence Riant, et al.Pageof 14