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Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCA, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han M, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JPG, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Höglinger GU, Müller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, Wang LS, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW. Kouri N, et al. Among authors: white cl. Nat Commun. 2015 Jun 16;6:7247. doi: 10.1038/ncomms8247. Nat Commun. 2015. PMID: 26077951 Free PMC article.
Cortical synapse loss in progressive supranuclear palsy.
Bigio EH, Vono MB, Satumtira S, Adamson J, Sontag E, Hynan LS, White CL 3rd, Baker M, Hutton M. Bigio EH, et al. Among authors: white cl 3rd. J Neuropathol Exp Neurol. 2001 May;60(5):403-10. doi: 10.1093/jnen/60.5.403. J Neuropathol Exp Neurol. 2001. PMID: 11379815
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. Among authors: white cl 3rd. 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
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration.
Cairns NJ, Bigio EH, Mackenzie IR, Neumann M, Lee VM, Hatanpaa KJ, White CL 3rd, Schneider JA, Grinberg LT, Halliday G, Duyckaerts C, Lowe JS, Holm IE, Tolnay M, Okamoto K, Yokoo H, Murayama S, Woulfe J, Munoz DG, Dickson DW, Ince PG, Trojanowski JQ, Mann DM; Consortium for Frontotemporal Lobar Degeneration. Cairns NJ, et al. Among authors: white cl 3rd. Acta Neuropathol. 2007 Jul;114(1):5-22. doi: 10.1007/s00401-007-0237-2. Epub 2007 Jun 20. Acta Neuropathol. 2007. PMID: 17579875 Free PMC article.
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: white cl 3rd. 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.
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium; Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. Urwin H, et al. Among authors: white cl 3rd. Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20. Acta Neuropathol. 2010. PMID: 20490813 Free PMC article.
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.
Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL 3rd, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R. Finch N, et al. Among authors: white cl 3rd. Neurology. 2011 Feb 1;76(5):467-74. doi: 10.1212/WNL.0b013e31820a0e3b. Epub 2010 Dec 22. Neurology. 2011. PMID: 21178100 Free PMC article.
473 results