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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. Among authors: dickson dw. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 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
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.
Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M. Houlden H, et al. Neurology. 2001 Jun 26;56(12):1702-6. doi: 10.1212/wnl.56.12.1702. Neurology. 2001. PMID: 11425937
1,355 results