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Biorxiv : the Preprint Server for Biology|November 14, 2023
Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modificationThai B Nguyen, Ricardo Miramontes, Carlos Chillon-Marinas, et al.
Science (New York, N.Y.)|March 17, 2023
Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathiesMichael W Baughn, Ze'ev Melamed, Jone López-Erauskin, et al.
Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.
Travel Medicine and Infectious Disease|April 15, 2020
Clinical and microbiological effect of a combination of hydroxychloroquine and azithromycin in 80 COVID-19 patients with at least a six-day follow up: A pilot observational studyPhilippe Gautret, Jean-Christophe Lagier, Philippe Parola, et al.
Nature Neuroscience|November 23, 2023
Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervationJone López-Erauskin, Mariana Bravo-Hernandez, Maximiliano Presa, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 31, 2013
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degenerationClotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, 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.
Acta Neuropathologica|September 10, 2015
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriersTania F Gendron, Marka van Blitterswijk, Kevin F Bieniek, et al.
Acta Neuropathologica|January 4, 2024
Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's diseaseAna Rita Agra Almeida Quadros, Zhaozhi Li, Xue Wang, et al.
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