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Parkinsonism & Related Disorders|November 2, 2017
Dystonia and ataxia progression in spinocerebellar ataxiasPei-Hsin Kuo, Shi-Rui Gan, Jie Wang, et al.Journal of the Neurological Sciences|May 27, 2020
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6Chen-Ya Yang, Ruo-Yah Lai, Nadia Amokrane, et al.Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.Human Mutation|November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersKathie J Ngo, Jessica E Rexach, Hane Lee, et al.Brain : a Journal of Neurology|October 28, 2025
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3Emilien Petit, Giulia Coarelli, David Morgan, et al.Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.The Journal of Neuropsychiatry and Clinical Neurosciences|May 12, 2025
Suicidal Ideation in Spinocerebellar AtaxiaLevi Peppel, Ruo-Yah Lai, Christian Rummey, et al.Pageof 26