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Science (New York, N.Y.)|August 9, 2014
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteinsSarah Mizielinska, Sebastian Grönke, Teresa Niccoli, et al.
Biorxiv : the Preprint Server for Biology|December 15, 2025
U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral SclerosisPuja R Mehta, Tomas Solomon, Sarah Pickles, et al.
Science Advances|July 22, 2021
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translationNicol Birsa, Agnieszka M Ule, Maria Giovanna Garone, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2023
Creation of de novo cryptic splicing for ALS/FTD precision medicineOscar G Wilkins, Max Z Y J Chien, Josette J Wlaschin, et al.
Biorxiv : the Preprint Server for Biology|February 5, 2024
TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTDSam Bryce-Smith, Anna-Leigh Brown, Puja R Mehta, et al.
Brain Communications|February 28, 2022
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chainAlexander G Thompson, Elizabeth Gray, Nick Verber, et al.
Nucleic Acids Research|June 2, 2020
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retentionJack Humphrey, Nicol Birsa, Carmelo Milioto, et al.
Genomics, Proteomics & Bioinformatics|November 22, 2024
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and PeptidomicsZiyi Li, Cory A Weller, Syed Shah, et al.
Brain : a Journal of Neurology|February 17, 2023
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general populationMatteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, et al.
Acta Neuropathologica|February 27, 2015
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patientsZhengrui Xi, Ming Zhang, Amalia C Bruni, et al.
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