Showing results (81-90 of 139) with videos related to

Sort By:
Pageof 14
Human Mutation|January 20, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme ActivityMarisa I Mendes, Desirée Ec Smith, Ana Pop, et al.
Orphanet Journal of Rare Diseases|November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Journal of the Neurological Sciences|August 15, 2018
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesiaAnne Koy, Sebahattin Cirak, Victoria Gonzalez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.
Frontiers in Neurology|March 6, 2026
<i>CTNNB1-</i>related disorders: clinical and radiological contributions from a French cohortEline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.
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|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Pageof 14