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Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.
Nature Genetics|January 24, 2006
Spectrin mutations cause spinocerebellar ataxia type 5Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, et al.
Frontiers in Neurology|November 16, 2020
Novel Homozygous Missense Mutation in the <i>ARG1</i> Gene in a Large Sudanese FamilyLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
The Journal of Molecular Diagnostics : JMD|February 21, 2018
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary ElectrophoresisClaudia Cagnoli, Alessandro Brussino, Cecilia Mancini, et al.
Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic ParaplegiaRui Zhu, Lang Liu, Mehrdad A Estiar, et al.
Neurobiology of Disease|June 14, 2024
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout miceManon Fortier, Margaux Cauhapé, Suzie Buono, et al.
Brain : a Journal of Neurology|July 30, 2014
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairmentJérôme Delplanque, David Devos, Vincent Huin, et al.
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