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Brain : a Journal of Neurology|October 4, 2017
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophyImen Dorboz, Chiara Aiello, Cas Simons, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.Journal of Medical Genetics|April 3, 2021
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.Neurology. Genetics|November 2, 2020
Congenital immobility and stiffness related to biallelic ATAD1 variantsRoxane Bunod, Diane Doummar, Sandra Whalen, et al.Frontiers in Neurology|June 21, 2024
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategiesJana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, et al.Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, 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.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.Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.Pageof 9