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Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN; Attendees of the inaugural C9ORF72 FTD/ALS Summit. Sattler R, et al. Neurol Ther. 2023 Dec;12(6):1821-1843. doi: 10.1007/s40120-023-00548-8. Epub 2023 Oct 17. Neurol Ther. 2023. PMID: 37847372 Free PMC article.
Breakdown of the central synapses in C9orf72-linked ALS/FTD.
Ghaffari LT, Trotti D, Haeusler AR, Jensen BK. Ghaffari LT, et al. Front Mol Neurosci. 2022 Sep 16;15:1005112. doi: 10.3389/fnmol.2022.1005112. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36187344 Free PMC article. Review.
Glucose Hypometabolism Prompts RAN Translation and Exacerbates C9orf72-related ALS/FTD Phenotypes.
Nelson AT, Cicardi ME, Markandaiah SS, Han J, Philp N, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H, Trotti D. Nelson AT, et al. bioRxiv [Preprint]. 2023 Jun 7:2023.06.07.544100. doi: 10.1101/2023.06.07.544100. bioRxiv. 2023. Update in: EMBO Rep. 2024 May;25(5):2479-2510. doi: 10.1038/s44319-024-00140-7 PMID: 37333144 Free PMC article. Updated. Preprint.