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BMJ Neurology Open|February 23, 2026
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALSKoen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, et al.Annals of Neurology|April 11, 2025
UNC13A Polymorphism Influences Survival in Patients with Frontotemporal DementiaLianne M Reus, Sean W Willemse, Sterre C M de Boer, et al.European Journal of Human Genetics : EJHG|April 28, 2021
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophreniaRestuadi Restuadi, Fleur C Garton, Beben Benyamin, et al.Journal of Neurology|December 12, 2024
Diagnosing primary lateral sclerosis: a clinico-pathological studyEva M J de Boer, Bálint S de Vries, Wim Van Hecke, et al.Neurobiology of Disease|March 16, 2023
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseasesZhongbo Chen, Regina H Reynolds, Antonio F Pardiñas, et al.Genome Medicine|January 19, 2022
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1Restuadi Restuadi, Frederik J Steyn, Edor Kabashi, et al.Neurobiology of Aging|December 15, 2022
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosisGijs H P Tazelaar, Paul J Hop, Meinie Seelen, et al.Neurobiology of Aging|October 16, 2012
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosisWouter van Rheenen, Frank P Diekstra, Perry T C van Doormaal, et al.Plos One|April 18, 2012
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALSFrank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 10, 2023
Clinical testing panels for ALS: global distribution, consistency, and challengesAllison A Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, et al.Pageof 8