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The Lancet. Neurology|July 26, 2024
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose studyLeonard H van den Berg, Jeffrey D Rothstein, Pamela J Shaw, 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.The Lancet. Neurology|October 11, 2014
Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling studyAmmar Al-Chalabi, Andrea Calvo, Adriano Chio, et al.Neuron|October 23, 2018
ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUSJone López-Erauskin, Takahiro Tadokoro, Michael W Baughn, et al.Elife|February 13, 2019
Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axisShuo-Chien Ling, Somasish Ghosh Dastidar, Seiya Tokunaga, et al.Annals of Clinical and Translational Neurology|May 22, 2024
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALSHeather Marriott, Thomas P Spargo, Ahmad Al Khleifat, et al.Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.Plos Genetics|September 20, 2008
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisNicola J Rutherford, Yong-Jie Zhang, Matt Baker, 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.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.Pageof 20