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BMC Genomics. 2024 Jun 29; 25 (1):651 Epub 2024 June 29 View PubMed Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta Neuropathol. 2024 Apr 19; 147 (1):73 View PubMed Pineda SS, Lee H, Ulloa-Navas MJ, Linville RM, Garcia FJ, Galani K, Engelberg-Cook E, Castanedes MC, Fitzwalter BE, Pregent LJ, Gardashli ME, DeTure M, Vera-Garcia DV, Hucke ATS, Oskarsson BE, Murray ME, Dickson DW, Heiman M, Belzil VV, Kellis M. Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD. Cell. 2024 Apr 11; 187 (8):1971-1989.e16 Epub 2024 Mar 22 View PubMed Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colon-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD. Sci Transl Med. 2024 Feb 14; 16 (734):eadg7162 View PubMed Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia. Sci Transl Med. 2024 Jan 17; 16 (730):eadf9735 View PubMed Castellanos Otero P, Todd TW, Shao W, Jones CJ, Huang K, Daughrity LM, Yue M, Sheth U, Gendron TF, Prudencio M, Oskarsson B, Dickson DW, Petrucelli L, Zhang YJ. Generation and characterization of monoclonal antibodies against pathologically phosphorylated TDP-43. PLoS One. 2024; 19 (4):e0298080 Epub 2024 Apr 18 View PubMed Quintana M, Saville BR, Vestrucci M, Detry MA, Chibnik L, Shefner J, Berry JD, Chase M, Andrews J, Sherman AV, Yu H, Drake K, Cudkowicz M, Paganoni S, Macklin EA, HEALEY ALS Platform Trial Study Group. Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis. Ann Neurol. 2023 Sep; 94(3):547-560. Epub 2023 Jun 22. View PubMed Young HM, Kilaberia TR, Whitney R, Link BM, Bell JF, Tonkikh O, Famula J, Oskarsson B. Needs of persons living with ALS at home and their family caregivers: A scoping review. Muscle Nerve. 2023 Sep; 68 (3):240-249 Epub 2023 May 29 View PubMed Park J, Wu Y, Shao W, Gendron TF, van der Spek SJF, Sultanakhmetov G, Basu A, Castellanos Otero P, Jones CJ, Jansen-West K, Daughrity LM, Phanse S, Del Rosso G, Tong J, Castanedes-Casey M, Jiang L, Libera J, Oskarsson B, Dickson DW, Sanders DW, Brangwynne CP, Emili A, Wolozin B, Petrucelli L, Zhang YJ. 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Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19. Sci Transl Med. 2021 Jul 14; 13 (602) Epub 2021 June 15 View PubMed DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases. 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