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Page 1
A novel tau mutation, p.K317N, causes globular glial tauopathy.
Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tacik P, et al. Among authors: baker mc. Acta Neuropathol. 2015 Aug;130(2):199-214. doi: 10.1007/s00401-015-1425-0. Epub 2015 Apr 22. Acta Neuropathol. 2015. PMID: 25900293 Free PMC article.
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations.
Houlden H, Rizzu P, Stevens M, de Knijff P, van Duijn CM, van Swieten JC, Heutink P, Perez-Tur J, Thomas V, Baker M, Morris H, Rossor M, Jannsen JC, Petersen RC, Dodd P, Dark F, Boeve B, Dickson D, Davies P, Pickering-Brown S, Mann D, Adamson J, Lynch T, Payami H, Hardy J, et al. Houlden H, et al. Neurosci Lett. 1999 Feb 5;260(3):193-5. doi: 10.1016/s0304-3940(98)00931-8. Neurosci Lett. 1999. PMID: 10076900
Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia.
Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snowden J, Mann D, Hutton M. Houlden H, et al. Ann Neurol. 1999 Aug;46(2):243-8. doi: 10.1002/1531-8249(199908)46:2<243::aid-ana14>3.0.co;2-l. Ann Neurol. 1999. PMID: 10443890
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. Neurology. 2002 Dec 10;59(11):1791-3. doi: 10.1212/01.wnl.0000038909.49164.4b. Neurology. 2002. PMID: 12473774
359 results