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Biorxiv : the Preprint Server for Biology|November 19, 2025
Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathwaysVelina Kozareva, Zhengde Liu, Keyana Blake, et al.Biorxiv : the Preprint Server for Biology|July 9, 2024
Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOsMatthew J Keuss, Peter Harley, Eugeni Ryadnov, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 3, 2023
UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic targetSean W Willemse, Peter Harley, Ruben P A van Eijk, et al.Acta Neuropathologica|January 4, 2019
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1AThomas G Moens, Teresa Niccoli, Katherine M Wilson, et al.Acta Neuropathologica|July 3, 2013
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementiaPietro Fratta, Mark Poulter, Tammaryn Lashley, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 16, 2021
Value of systematic genetic screening of patients with amyotrophic lateral sclerosisStephanie R Shepheard, Matthew D Parker, Johnathan Cooper-Knock, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 25, 2025
Muscle MRI quantifies disease progression in amyotrophic lateral sclerosisUros Klickovic, Luca Zampedri, Nick Zafeiropoulos, et al.Brain : a Journal of Neurology|October 21, 2017
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin miceAnny Devoy, Bernadett Kalmar, Michelle Stewart, et al.Biorxiv : the Preprint Server for Biology|January 3, 2024
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and PeptidomicsZiyi Li, Cory A Weller, Syed Shah, et al.Brain Communications|March 26, 2026
C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementiaCarmelo Milioto, Mireia Carcolé, Matteo Zanovello, et al.Pageof 12