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Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA; Alzheimer's Disease Genetics Consortium; Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH. Coppola G, et al. Among authors: ghetti b. Hum Mol Genet. 2012 Aug 1;21(15):3500-12. doi: 10.1093/hmg/dds161. Epub 2012 May 3. Hum Mol Genet. 2012. PMID: 22556362 Free PMC article.
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes.
Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, St George-Hyslop P, Ghetti B, Nochlin D, Bird TD, Cairns NJ, Lee VM, Iwatsubo T, Trojanowski JQ. Lippa CF, et al. Among authors: ghetti b. Am J Pathol. 1998 Nov;153(5):1365-70. doi: 10.1016/s0002-9440(10)65722-7. Am J Pathol. 1998. PMID: 9811326 Free PMC article.
Tau pathology in a family with dementia and a P301L mutation in tau.
Mirra SS, Murrell JR, Gearing M, Spillantini MG, Goedert M, Crowther RA, Levey AI, Jones R, Green J, Shoffner JM, Wainer BH, Schmidt ML, Trojanowski JQ, Ghetti B. Mirra SS, et al. Among authors: ghetti b. J Neuropathol Exp Neurol. 1999 Apr;58(4):335-45. doi: 10.1097/00005072-199904000-00004. J Neuropathol Exp Neurol. 1999. PMID: 10218629
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, Delisle MB, Soulages X, Murrell JR, Ghetti B, Yasuda M, Komure O, Kuno S, Arima K, Sunohara N, Kobayashi T, Mizuno Y, Wszolek ZK. Tsuboi Y, et al. Among authors: ghetti b. Neurology. 2002 Dec 10;59(11):1791-3. doi: 10.1212/01.wnl.0000038909.49164.4b. Neurology. 2002. PMID: 12473774
Neuropsychological function in nondemented carriers of presenilin-1 mutations.
Ringman JM, Diaz-Olavarrieta C, Rodriguez Y, Chavez M, Fairbanks L, Paz F, Varpetian A, Maldonado HC, Macias-Islas MA, Murrell J, Ghetti B, Kawas C. Ringman JM, et al. Among authors: ghetti b. Neurology. 2005 Aug 23;65(4):552-8. doi: 10.1212/01.wnl.0000172919.50001.d6. Neurology. 2005. PMID: 16116115 Free PMC article.
Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease.
Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, Bigio EH, Ghetti B, Murrell JR, Delisle MB, Mirra S, Crain B, Zolo P, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, Mackenzie J, Khan N, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Mann DM. Shiarli AM, et al. Among authors: ghetti b. Neuropathol Appl Neurobiol. 2006 Aug;32(4):374-87. doi: 10.1111/j.1365-2990.2006.00736.x. Neuropathol Appl Neurobiol. 2006. PMID: 16866983
563 results