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Nature Communications|January 8, 2025
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivoLiam Kempthorne, Deniz Vaizoglu, Alexander J Cammack, et al.Cell Reports|May 11, 2025
A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neuronsBenedikt V Hölbling, Yashica Gupta, Paolo M Marchi, et al.Nature Communications|July 6, 2017
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficitsGuillaume M Hautbergue, Lydia M Castelli, Laura Ferraiuolo, et al.Nature Metabolism|September 22, 2025
The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseasesFemke M Feringa, Sascha J Koppes-den Hertog, Lian Y Wang, et al.Nature Neuroscience|February 29, 2024
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neuronsCarmelo Milioto, Mireia Carcolé, Ashling Giblin, et al.The EMBO Journal|May 17, 2018
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosisPietro Fratta, Prasanth Sivakumar, Jack Humphrey, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 5, 2022
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosisKatherine M Wilson, Eszter Katona, Idoia Glaria, et al.Acta Neuropathologica|May 22, 2010
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degenerationHazel Urwin, Keith A Josephs, Jonathan D Rohrer, et al.Pageof 10