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Neurobiology of Aging|September 3, 2014
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionPietro Fratta, James M Polke, Jia Newcombe, 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 Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.Nature|February 24, 2022
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13AAnna-Leigh Brown, Oscar G Wilkins, Matthew J Keuss, et al.EMBO Molecular Medicine|November 9, 2017
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivoRoberto Simone, Rubika Balendra, Thomas G Moens, 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.Nature Neuroscience|November 1, 2025
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTDBrian J Joseph, Kelly A Marshall, Peter Harley, 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.Nature Neuroscience|April 2, 2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisJanel O Johnson, Erik P Pioro, Ashley Boehringer, et al.Pageof 12