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Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's DiseaseXiaosheng Zheng, Zhidong Cen, Xinhui Chen, et al.International Journal of Environmental Research and Public Health|July 2, 2021
Community Engagement Practices at Research Centers in U.S. Minority Institutions: Priority Populations and Innovative Approaches to Advancing Health Disparities ResearchTabia Henry Akintobi, Payam Sheikhattari, Emma Shaffer, et al.Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, et al.Human Genomics|April 3, 2024
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous populationNejat Mahdieh, Morteza Heidari, Zahra Rezaei, et al.American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.Pageof 15