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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, Troak… See abstract for full author list ➔ Pottier C, et al. Among authors: mackenzie ir. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration.
Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL; ALLFTD Consortium. Staffaroni AM, et al. JAMA Netw Open. 2024 Apr 1;7(4):e244266. doi: 10.1001/jamanetworkopen.2024.4266. JAMA Netw Open. 2024. PMID: 38558141 Free PMC article.
Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers.
VandeBunte AM, Lee H, Paolillo EW, Hsiung GR, Staffaroni AM, Saloner R, Tartaglia C, Yaffe K, Knopman DS, Ramos EM, Rascovsky K, Bozoki AC, Wong B, Domoto-Reilly K, Snyder A, Pressman P, Mendez MF, Litvan I, Fields JA, Galasko DR, Darby R, Masdeu JC, Pasqual MB, Honig LS, Ghoshal N, Appleby BS, Mackenzie IR, Heuer HW, Kramer JH, Boxer AL, Forsberg LK, Boeve B, Rosen HJ, Casaletto KB; ALLFTD Consortium. VandeBunte AM, et al. Among authors: mackenzie ir. Alzheimers Dement. 2024 Oct;20(10):6820-6833. doi: 10.1002/alz.14172. Epub 2024 Sep 6. Alzheimers Dement. 2024. PMID: 39240048 Free PMC article.
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.
Taskesen E, Mishra A, van der Sluis S, Ferrari R; International FTD-Genomics Consortium; Veldink JH, van Es MA, Smit AB, Posthuma D, Pijnenburg Y. Taskesen E, et al. Sci Rep. 2018 May 14;8(1):7789. doi: 10.1038/s41598-018-21308-x. Sci Rep. 2018. PMID: 29760392 Free PMC article.
Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease.
Azaria RD, Ferris SP, Tashjian RS, Perneel J, Van den Broeck M, Mackenzie IR, Berry-Kravis E, Rademakers R, Lieberman AP. Azaria RD, et al. Among authors: mackenzie ir. J Neuropathol Exp Neurol. 2024 Nov 1;83(11):984-986. doi: 10.1093/jnen/nlae072. J Neuropathol Exp Neurol. 2024. PMID: 38964371 No abstract available.
Local structural preferences in shaping tau amyloid polymorphism.
Louros N, Wilkinson M, Tsaka G, Ramakers M, Morelli C, Garcia T, Gallardo R, D'Haeyer S, Goossens V, Audenaert D, Thal DR, Mackenzie IR, Rademakers R, Ranson NA, Radford SE, Rousseau F, Schymkowitz J. Louros N, et al. Among authors: mackenzie ir. Nat Commun. 2024 Feb 3;15(1):1028. doi: 10.1038/s41467-024-45429-2. Nat Commun. 2024. PMID: 38310108 Free PMC article.
Biomarker-Based Approach to α-Synucleinopathies: Lessons from Neuropathology.
Kovacs GG, Grinberg LT, Halliday G, Alafuzoff I, Dugger BN, Murayama S, Forrest SL, Martinez-Valbuena I, Tanaka H, Kon T, Yoshida K, Jaunmuktane Z, Spina S, Nelson PT, Gentleman S, Alegre-Abarrategui J, Serrano GE, Paes VR, Takao M, Wakabayashi K, Uchihara T, Yoshida M, Saito Y, Kofler J, Rodriguez RD, Gelpi E, Attems J, Crary JF, Seeley WW, Duda JE, Keene CD, Woulfe J, Munoz D, Smith C, Lee EB, Neumann M, White CL 3rd, McKee AC, Thal DR, Jellinger K, Ghetti B, Mackenzie IRA, Dickson DW, Beach TG. Kovacs GG, et al. Among authors: mackenzie ira. Mov Disord. 2024 Oct 3. doi: 10.1002/mds.30028. Online ahead of print. Mov Disord. 2024. PMID: 39360851 No abstract available.
Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study.
Paolillo EW, Casaletto KB, Clark AL, Taylor JC, Heuer HW, Wise AB, Dhanam S, Sanderson-Cimino M, Saloner R, Kramer JH, Kornak J, Kremers W, Forsberg L, Appleby B, Bayram E, Bozoki A, Brushaber D, Darby RR, Day GS, Dickerson BC, Domoto-Reilly K, Elahi F, Fields JA, Ghoshal N, Graff-Radford N, G H Hall M, Honig LS, Huey ED, Lapid MI, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Mester C, Miyagawa T, Naasan G, Pascual B, Pressman P, Ramos EM, Rankin KP, Rexach J, Rojas JC, VandeVrede L, Wong B, Wszolek ZK, Boeve BF, Rosen HJ, Boxer AL, Staffaroni AM; ALLFTD Consortium. Paolillo EW, et al. Among authors: mackenzie ir. JMIR Aging. 2024 Jun 26;7:e52831. doi: 10.2196/52831. JMIR Aging. 2024. PMID: 38922667 Free PMC article.
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.
Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, Benussi L, Bessi V, Binetti G, Blackburn DJ, Boada M, Boeve BF, Borrego-Ecija S, Borroni B, Bråthen G, Brooks WS, Bruni AC, Caroppo P, Bandres-Ciga S, Clarimon J, Colao R, Cruchaga C, Danek A, de Boer SC, de Rojas I, di Costanzo A, Dickson DW, Diehl-Schmid J, Dobson-Stone C, Dols-Icardo O, Donizetti A, Dopper E, Durante E, Ferrari C, Forloni G, Frangipane F, Fratiglioni L, Kramberger MG, Galimberti D, Gallucci M, García-González P, Ghidoni R, Giaccone G, Graff C, Graff-Radford NR, Grafman J, Halliday GM, Hernandez DG, Hjermind LE, Hodges JR, Holloway G, Huey ED, Illán-Gala I, Josephs KA, Knopman DS, Kristiansen M, Kwok JB, Leber I, Leonard HL, Libri I, Lleo A, Mackenzie IR, Madhan GK, Maletta R, Marquié M, Maver A, Menendez-Gonzalez M, Milan G, Miller BL, Morris CM, Morris HR, Nacmias B, Newton J, Nielsen JE, Nilsson C, Novelli V, Padovani A, Pal S, Pasquier F, Pastor P, Perneczky R, Peterlin B, Petersen RC, Piguet O, Pijnenburg YA, Puca AA, Rademakers R, Rainero I, Reus LM, Richardson AM, Riemenschneider M, Rogaeva E,… See abstract for full author list ➔ Manzoni C, et al. Among authors: mackenzie ir. Am J Hum Genet. 2024 Jul 11;111(7):1316-1329. doi: 10.1016/j.ajhg.2024.05.017. Epub 2024 Jun 17. Am J Hum Genet. 2024. PMID: 38889728 Free PMC article.
Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion.
Mielke JK, Klingeborn M, Schultz EP, Markham EL, Reese ED, Alam P, Mackenzie IR, Ly CV, Caughey B, Cashman NR, Leavens MJ. Mielke JK, et al. Among authors: mackenzie ir. Acta Neuropathol. 2024 Jun 17;147(1):100. doi: 10.1007/s00401-024-02752-8. Acta Neuropathol. 2024. PMID: 38884646 Free PMC article.
272 results