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Page 1
Single-nucleus multiomic atlas of frontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms.
McKeever PM, Sababi AM, Sharma R, Khuu N, Xu Z, Shen SY, Xiao S, McGoldrick P, Orouji E, Ketela T, Sato C, Moreno D, Visanji N, Kovacs GG, Keith J, Zinman L, Rogaeva E, Goodarzi H, Bader GD, Robertson J. McKeever PM, et al. Among authors: keith j. bioRxiv [Preprint]. 2023 Dec 23:2023.12.22.573083. doi: 10.1101/2023.12.22.573083. bioRxiv. 2023. PMID: 38187588 Free PMC article. Preprint.
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: keith j. bioRxiv [Preprint]. 2024 Oct 29:2024.10.26.620312. doi: 10.1101/2024.10.26.620312. bioRxiv. 2024. Update in: NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019 PMID: 39569145 Free PMC article. Updated. Preprint.
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC… See abstract for full author list ➔ Pottier C, et al. Among authors: keith j. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M; International Lewy Body Dementia Genomics Consortium; Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Wu LY, et al. Brain Commun. 2024 May 31;6(4):fcae190. doi: 10.1093/braincomms/fcae190. eCollection 2024. Brain Commun. 2024. PMID: 38978726 Free PMC article.
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.
Negm L, Chung J, Nobre L, Bennett J, Fernandez NR, Nunes NM, Liu ZA, Komosa M, Aronson M, Zhang C, Stengs L, Bianchi V, Edwards M, Doherty S, Ercan AB, Cardenas MF, Macias M, Lueder MR, Ku M, Johnson M, Chang Y, Dimayacyac JR, Kraya AA, Guo Y, Naky S, Keith J, Gao AF, Munoz DG, Nguyen L, Tsang DS, Lim-Fat MJ, Das S, Shlien A, Ramaswamy V, Huang A, Malkin D, Villani A, Ertl-Wagner B, Levine A, Robinson GW, Pollock BH, Spector LG, Sei S, Dirks PB, Getz G, Nichols KE, Resnick AC, Wheeler DA, Das A, Maruvka YE, Hawkins C, Tabori U. Negm L, et al. Among authors: keith j. Lancet Oncol. 2024 Dec 16:S1470-2045(24)00640-5. doi: 10.1016/S1470-2045(24)00640-5. Online ahead of print. Lancet Oncol. 2024. PMID: 39701117
C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: keith j. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.
885 results