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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Baker M, et al. Among authors: mann d. Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16. Nature. 2006. PMID: 16862116
Frontotemporal dementia.
Neary D, Snowden J, Mann D. Neary D, et al. Among authors: mann d. Lancet Neurol. 2005 Nov;4(11):771-80. doi: 10.1016/S1474-4422(05)70223-4. Lancet Neurol. 2005. PMID: 16239184 Review.
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, Parisi J, Dickison D, Adamson J, Snowden J, Neary D, Mann D, Hutton M, Pickering-Brown SM. Cannon A, et al. Among authors: mann d. Neurosci Lett. 2006 May 1;398(1-2):83-4. doi: 10.1016/j.neulet.2005.12.056. Epub 2006 Jan 23. Neurosci Lett. 2006. PMID: 16431024
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: mann d. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Frontotemporal dementia.
Snowden JS, Neary D, Mann DM. Snowden JS, et al. Among authors: mann dm. Br J Psychiatry. 2002 Feb;180:140-3. doi: 10.1192/bjp.180.2.140. Br J Psychiatry. 2002. PMID: 11823324 Review.
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AM, Neary D, Snowden JS, Mann DM. Pickering-Brown SM, et al. Among authors: mann dm. Brain. 2008 Mar;131(Pt 3):721-31. doi: 10.1093/brain/awm331. Epub 2008 Jan 11. Brain. 2008. PMID: 18192287
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. Among authors: mann d. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
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. Among authors: mann d. 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
2,758 results