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The genetics of frontotemporal dementia.
Haugarvoll K, Wszolek ZK, Hutton M. Haugarvoll K, et al. Neurol Clin. 2007 Aug;25(3):697-715, vi. doi: 10.1016/j.ncl.2007.03.002. Neurol Clin. 2007. PMID: 17659186 Review.
New genes, new dilemmas: FTLD genetics and its implications for families.
Goldman JS, Adamson J, Karydas A, Miller BL, Hutton M. Goldman JS, et al. Am J Alzheimers Dis Other Demen. 2007 Dec-2008 Jan;22(6):507-15. doi: 10.1177/1533317507306662. Am J Alzheimers Dis Other Demen. 2007. PMID: 18166610
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Pickering-Brown S, et al. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):79-82. doi: 10.1002/ajmg.b.20083. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755449
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
Kelley BJ, Haidar W, Boeve BF, Baker M, Shiung M, Knopman DS, Rademakers R, Hutton M, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Petersen RC. Kelley BJ, et al. Arch Neurol. 2010 Feb;67(2):171-7. doi: 10.1001/archneurol.2010.113. Arch Neurol. 2010. PMID: 20142525 Free PMC article.
Prominent phenotypic variability associated with mutations in Progranulin.
Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR Jr, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Ivnik RJ, Petersen RC. Kelley BJ, et al. Neurobiol Aging. 2009 May;30(5):739-51. doi: 10.1016/j.neurobiolaging.2007.08.022. Epub 2007 Oct 18. Neurobiol Aging. 2009. PMID: 17949857 Free PMC article.
Characteristics of frontotemporal dementia patients with a Progranulin mutation.
Huey ED, Grafman J, Wassermann EM, Pietrini P, Tierney MC, Ghetti B, Spina S, Baker M, Hutton M, Elder JW, Berger SL, Heflin KA, Hardy J, Momeni P. Huey ED, et al. Ann Neurol. 2006 Sep;60(3):374-80. doi: 10.1002/ana.20969. Ann Neurol. 2006. PMID: 16983677 Free PMC article.
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman HH. Mackenzie IR, et al. Brain. 2006 Nov;129(Pt 11):3081-90. doi: 10.1093/brain/awl271. Brain. 2006. PMID: 17071926
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Gass J, et al. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1. Hum Mol Genet. 2006. PMID: 16950801
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