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Page 1
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: petrucelli l. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber D, Staffaroni AM, Geschwind D, Wolf A, Kantarci K, Gendron TF, Petrucelli L, Van den Broeck M, Wynants S, Baker MC, Borrego-Écija S, Appleby B, Barmada S, Bozoki A, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko DR, Ghoshal N, Graff-Radford N, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin D, Knopman DS, Kwan JY, Léger GC, Litvan I, Masdeu JC, Mendez MF, Onyike C, Pascual B, Pressman P, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R. Vandebergh M, et al. Among authors: petrucelli l. medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24305253. doi: 10.1101/2024.04.05.24305253. medRxiv. 2024. Update in: Neurology. 2024 Oct 22;103(8):e209832. doi: 10.1212/WNL.0000000000209832 PMID: 38633784 Free PMC article. Updated. Preprint.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
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. Udine E, et al. Among authors: petrucelli l. Acta Neuropathol. 2024 Apr 19;147(1):73. doi: 10.1007/s00401-024-02720-2. Acta Neuropathol. 2024. PMID: 38641715 Free PMC article.
CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD.
Pickles S, Zanetti Alepuz D, Koike Y, Yue M, Tong J, Liu P, Zhou Y, Jansen-West K, Daughrity LM, Song Y, DeTure M, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Dickson DW, Ward ME, Dong L, Prudencio M, Cook CN, Petrucelli L. Pickles S, et al. Among authors: petrucelli l. Front Cell Dev Biol. 2023 Aug 7;11:1251551. doi: 10.3389/fcell.2023.1251551. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37614226 Free PMC article.
Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers.
Casaletto KB, Kornack J, Paolillo EW, Rojas JC, VandeBunte A, Staffaroni AS, Lee S, Heuer H, Forsberg L, Ramos EM, Miller BL, Kramer JH, Yaffe K, Petrucelli L, Boxer A, Boeve B, Gendron TF, Rosen H; ALLFTD Consortium. Casaletto KB, et al. Among authors: petrucelli l. JAMA Neurol. 2023 Jan 1;80(1):82-90. doi: 10.1001/jamaneurol.2022.4178. JAMA Neurol. 2023. PMID: 36374516 Free PMC article.
TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes.
Zeng Y, Lovchykova A, Akiyama T, Liu C, Guo C, Jawahar VM, Sianto O, Calliari A, Prudencio M, Dickson DW, Petrucelli L, Gitler AD. Zeng Y, et al. Among authors: petrucelli l. bioRxiv [Preprint]. 2024 Jan 22:2024.01.22.575730. doi: 10.1101/2024.01.22.575730. bioRxiv. 2024. PMID: 38328059 Free PMC article. Preprint.
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.
Tseng YJ, Malik I, Deng X, Krans A, Jansen-West K, Tank EMH, Gomez NB, Sher R, Petrucelli L, Barmada SJ, Todd PK. Tseng YJ, et al. Among authors: petrucelli l. bioRxiv [Preprint]. 2023 Jun 7:2023.06.07.544135. doi: 10.1101/2023.06.07.544135. bioRxiv. 2023. Update in: Nucleic Acids Res. 2024 Jun 10;52(10):5928-5949. doi: 10.1093/nar/gkae137 PMID: 37333274 Free PMC article. Updated. Preprint.
Erratum: Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19.
Erben Y, Prudencio M, Marquez CP, Jansen-West KR, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Qosja N, Song Y, Al Shaikh RH, Daughrity LM, Bartfield JL, Day GS, Oskarsson B, Nicholson KA, Wszolek ZK, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Erben Y, et al. Among authors: petrucelli l. iScience. 2024 Mar 20;27(4):109501. doi: 10.1016/j.isci.2024.109501. eCollection 2024 Apr 19. iScience. 2024. PMID: 38523775 Free PMC article.
Physiological shedding and C-terminal proteolytic processing of TMEM106B.
Held S, Erck C, Kemppainen S, Bleibaum F, Giridhar NJ, Feederle R, Krenner C, Juopperi SP, Calliari A, Mentrup T, Schröder B, Dickson DW, Rauramaa T, Petrucelli L, Prudencio M, Hiltunen M, Lüningschrör P, Capell A, Damme M. Held S, et al. Among authors: petrucelli l. Cell Rep. 2024 Dec 21;44(1):115107. doi: 10.1016/j.celrep.2024.115107. Online ahead of print. Cell Rep. 2024. PMID: 39709600 Free article.
335 results