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Frontotemporal dementia.
Neary D, Snowden J, Mann D. Neary D, et al. Lancet Neurol. 2005 Nov;4(11):771-80. doi: 10.1016/S1474-4422(05)70223-4. Lancet Neurol. 2005. PMID: 16239184 Review.
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. Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16. Nature. 2006. PMID: 16862116
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. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males.
Srinivasan R, Davidson Y, Gibbons L, Payton A, Richardson AM, Varma A, Julien C, Stopford C, Thompson J, Horan MA, Pendleton N, Pickering-Brown SM, Neary D, Snowden JS, Mann DM. Srinivasan R, et al. Among authors: mann dm. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):154-8. doi: 10.1136/jnnp.2005.063966. J Neurol Neurosurg Psychiatry. 2006. PMID: 16421115 Free PMC article.
519 results