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Neurobiology of Aging|July 15, 2018
Novel VCP mutations expand the mutational spectrum of frontotemporal dementiaDario Saracino, Fabienne Clot, Agnès Camuzat, et al.Human Genetics|November 13, 2023
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSandra Martins, Ashraf Yahia, Inês P D Costa, et al.Lancet (London, England)|February 5, 2011
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies, Michael A Nalls, Vincent Plagnol, et al.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.Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificityMaya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, 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.Neurology. Genetics|June 10, 2016
Defining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, et al.Parkinsonism & Related Disorders|September 22, 2020
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutationsFábio Carneiro, Dario Saracino, Vincent Huin, et al.Neurobiology of Disease|January 15, 2005
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's diseaseSandrine Macé, Emmanuelle Cousin, Sylvain Ricard, et al.Pageof 50