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Page 1
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ… See abstract for full author list ➔ Van Deerlin VM, et al. Among authors: woodruff bk. Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154673 Free PMC article.
Cerebral white matter rarefaction has both neurodegenerative and vascular causes and may primarily be a distal axonopathy.
Beach TG, Sue LI, Scott S, Intorcia AJ, Walker JE, Arce RA, Glass MJ, Borja CI, Cline MP, Hemmingsen SJ, Qiji S, Stewart A, Martinez KN, Krupp A, McHattie R, Mariner M, Lorenzini I, Kuramoto A, Long KE, Tremblay C, Caselli RJ, Woodruff BK, Rapscak SZ, Belden CM, Goldfarb D, Choudhury P, Driver-Dunckley ED, Mehta SH, Sabbagh MN, Shill HA, Atri A, Adler CH, Serrano GE. Beach TG, et al. Among authors: woodruff bk. J Neuropathol Exp Neurol. 2023 May 25;82(6):457-466. doi: 10.1093/jnen/nlad026. J Neuropathol Exp Neurol. 2023. PMID: 37071794 Free PMC article.
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Gass J, et al. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1. Hum Mol Genet. 2006. PMID: 16950801
Frontotemporal dementia.
Graff-Radford NR, Woodruff BK. Graff-Radford NR, et al. Among authors: woodruff bk. Semin Neurol. 2007 Feb;27(1):48-57. doi: 10.1055/s-2006-956755. Semin Neurol. 2007. PMID: 17226741 Review.
Ataxin-2 repeat-length variation and neurodegeneration.
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R. Ross OA, et al. Among authors: woodruff bk. Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24. Hum Mol Genet. 2011. PMID: 21610160 Free PMC article.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, D… See abstract for full author list ➔ Pottier C, et al. Among authors: woodruff bk. Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9. Acta Neuropathol. 2019. PMID: 30739198 Free PMC article.
The effect of tau genotype on clinical features in FTDP-17.
Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, Putzke JD, Woodruff BK, Ghetti B, Murrell JR, Boeve BF, Petersen RC, Verpillat P, Brice A, Delisle MB, Rascol O, Arima K, Dysken MW, Yasuda M, Kobayashi T, Sunohara N, Komure O, Kuno S, Sperfeld AD, Stoppe G, Kohlhase J, Pickering-Brown S, Neary D, Bugiani O, Wszolek ZK. Baba Y, et al. Among authors: woodruff bk. Parkinsonism Relat Disord. 2005 Jun;11(4):205-8. doi: 10.1016/j.parkreldis.2005.01.003. Parkinsonism Relat Disord. 2005. PMID: 15878580
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
Kumar N, Boeve BF, Boot BP, Orr CF, Duffy J, Woodruff BK, Nair AK, Ellison J, Kuntz K, Kantarci K, Jack CR Jr, Westmoreland BF, Fields JA, Baker M, Rademakers R, Parisi JE, Dickson DW. Kumar N, et al. Among authors: woodruff bk. Arch Neurol. 2011 Sep;68(9):1165-70. doi: 10.1001/archneurol.2011.187. Arch Neurol. 2011. PMID: 21911696 Free PMC article.
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