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HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM. Mukherjee O, et al. Among authors: goate am. Ann Neurol. 2006 Sep;60(3):314-22. doi: 10.1002/ana.20963. Ann Neurol. 2006. PMID: 16983685 Free PMC article.
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.
Behrens MI, Mukherjee O, Tu PH, Liscic RM, Grinberg LT, Carter D, Paulsmeyer K, Taylor-Reinwald L, Gitcho M, Norton JB, Chakraverty S, Goate AM, Morris JC, Cairns NJ. Behrens MI, et al. Among authors: goate am. Alzheimer Dis Assoc Disord. 2007 Jan-Mar;21(1):1-7. doi: 10.1097/WAD.0b013e31803083f2. Alzheimer Dis Assoc Disord. 2007. PMID: 17334266
Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
Wang JC, Cruchaga C, Saccone NL, Bertelsen S, Liu P, Budde JP, Duan W, Fox L, Grucza RA, Kern J, Mayo K, Reyes O, Rice J, Saccone SF, Spiegel N, Steinbach JH, Stitzel JA, Anderson MW, You M, Stevens VL, Bierut LJ, Goate AM; COGEND collaborators and GELCC collaborators. Wang JC, et al. Among authors: goate am. Hum Mol Genet. 2009 Aug 15;18(16):3125-35. doi: 10.1093/hmg/ddp231. Epub 2009 May 14. Hum Mol Genet. 2009. PMID: 19443489 Free PMC article.
Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.
Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, Piccio LM, Clerici F, Albani D, Mariani C, Forloni G, Bresolin N, Goate AM, Scarpini E. Fenoglio C, et al. Among authors: goate am. J Alzheimers Dis. 2009;18(3):603-12. doi: 10.3233/JAD-2009-1170. J Alzheimers Dis. 2009. PMID: 19625741 Free PMC article.
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.
Kauwe JS, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Morris JC, Goate AM; Alzheimer's Disease Neuroimaging Initiative. Kauwe JS, et al. Among authors: goate am. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):955-9. doi: 10.1002/ajmg.b.31053. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20029940 Free PMC article.
SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease.
Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MM, Williams J, Lovestone S, Peskind ER, Li G, Leverenz JB, Galasko D; Alzheimer's Disease Neuroimaging Initiative; Morris JC, Fagan AM, Holtzman DM, Goate AM. Cruchaga C, et al. Among authors: goate am. PLoS Genet. 2010 Sep 16;6(9):e1001101. doi: 10.1371/journal.pgen.1001101. PLoS Genet. 2010. PMID: 20862329 Free PMC article.
396 results