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Cell Reports|April 9, 2025
Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradationDunxin Shen, Alec Vincent, Evan Udine, et al.Acta Neuropathologica|July 3, 2013
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementiaPietro Fratta, Mark Poulter, Tammaryn Lashley, et al.Nature Communications|September 22, 2023
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9Björn F Vahsen, Sumedha Nalluru, Georgia R Morgan, 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.Human Molecular Genetics|January 18, 2017
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutationEmma L Clayton, Renzo Mancuso, Troels Tolstrup Nielsen, et al.Biorxiv : the Preprint Server for Biology|October 1, 2025
Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTDRachel Coneys, Alexander J Cammack, Remya R Nair, 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.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.Nature Neuroscience|July 31, 2019
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeatsShizuka B Yamada, Tania F Gendron, 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.Pageof 10