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Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Science (New York, N.Y.)|August 13, 2016
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcriptsNicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, et al.
Nature|March 5, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSHong Joo Kim, Nam Chul Kim, Yong-Dong Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2011
A yeast functional screen predicts new candidate ALS disease genesJulien Couthouis, Michael P Hart, James Shorter, et al.
Neurobiology of Aging|December 27, 2016
ATXN2 trinucleotide repeat length correlates with risk of ALSWilliam Sproviero, Aleksey Shatunov, Daniel Stahl, et al.
Biorxiv : the Preprint Server for Biology|February 12, 2026
A consensus spinal cord cell type atlas across mouse, macaque, and humanMatthew T Schmitz, Nelson J Johansen, Niklas Kempynck, et al.
Nature Communications|April 16, 2016
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementiaKelly L Williams, Simon Topp, Shu Yang, et al.
Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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