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Journal of Neurology, Neurosurgery, and Psychiatry|March 9, 2012
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansionBaber K Khan, Jennifer S Yokoyama, Leonel T Takada, et al.Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.Acta Neuropathologica Communications|October 10, 2019
Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriersDennis W Dickson, Matthew C Baker, Jazmyne L Jackson, et al.Brain : a Journal of Neurology|April 23, 2021
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseasesMariely DeJesus-Hernandez, Ross A Aleff, Jazmyne L Jackson, et al.Science Translational Medicine|September 14, 2022
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteinsJunli Gao, Quinlan T Mewborne, Amandeep Girdhar, et al.Acta Neuropathologica|May 17, 2017
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriersMariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, et al.Acta Neuropathologica|June 6, 2025
Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicingJúlia Faura, Bavo Heeman, Cyril Pottier, et al.Neuron|September 28, 2011
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSMariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, et al.Neurobiology of Aging|September 20, 2011
Chromosome 9 ALS and FTD locus is probably derived from a single founderKin Mok, Bryan J Traynor, Jennifer Schymick, et al.Neurology. Genetics|June 30, 2017
Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriersNiCole A Finch, Xue Wang, Matthew C Baker, et al.Pageof 6