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Page 1
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; Alzheimer's Disease Neuroimaging Initiative; van Duijn CM, Breteler… See abstract for full author list ➔ Hollingworth P, et al. Among authors: jonsson pv, jonsson t. Nat Genet. 2011 May;43(5):429-35. doi: 10.1038/ng.803. Epub 2011 Apr 3. Nat Genet. 2011. PMID: 21460840 Free PMC article.
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ; DemGene; Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M, Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J, Stefansson K. Steinberg S, et al. Among authors: jonsson pv, jonsson t. Nat Genet. 2015 May;47(5):445-7. doi: 10.1038/ng.3246. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807283 Free article.
Variant of TREM2 associated with the risk of Alzheimer's disease.
Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J, Bjornsson S, Huttenlocher J, Levey AI, Lah JJ, Rujescu D, Hampel H, Giegling I, Andreassen OA, Engedal K, Ulstein I, Djurovic S, Ibrahim-Verbaas C, Hofman A, Ikram MA, van Duijn CM, Thorsteinsdottir U, Kong A, Stefansson K. Jonsson T, et al. Among authors: jonsson pv. N Engl J Med. 2013 Jan 10;368(2):107-16. doi: 10.1056/NEJMoa1211103. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150908 Free PMC article.
Evaluating differences in linkage disequilibrium between populations.
Hrafnkelsson B, Helgason A, Jonsson GF, Gudbjartsson DF, Jonsson T, Thorvaldsson S, Stefansson H, Steinthorsdottir V, Vidarsdottir N, Middleton D, Petersen HS, Martinez C, Snaedal J, Jonsson PV, Bjornsson S, Gulcher JR, Stefansson K. Hrafnkelsson B, et al. Among authors: jonsson pv, jonsson t, jonsson gf. Ann Hum Genet. 2010 May;74(3):233-47. doi: 10.1111/j.1469-1809.2010.00571.x. Ann Hum Genet. 2010. PMID: 20529015
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.
Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S, Stefansson H, Sulem P, Gudbjartsson D, Maloney J, Hoyte K, Gustafson A, Liu Y, Lu Y, Bhangale T, Graham RR, Huttenlocher J, Bjornsdottir G, Andreassen OA, Jönsson EG, Palotie A, Behrens TW, Magnusson OT, Kong A, Thorsteinsdottir U, Watts RJ, Stefansson K. Jonsson T, et al. Among authors: jonsson pv, jonsson eg. Nature. 2012 Aug 2;488(7409):96-9. doi: 10.1038/nature11283. Nature. 2012. PMID: 22801501
Variant in the sequence of the LINGO1 gene confers risk of essential tremor.
Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir IH, Jonsdottir GA, Palsson ST, Jonsson T, Saemundsdottir J, Bjornsdottir G, Böttcher Y, Thorlacius T, Haubenberger D, Zimprich A, Auff E, Hotzy C, Testa CM, Miyatake LA, Rosen AR, Kristleifsson K, Rye D, Asmus F, Schöls L, Dichgans M, Jakobsson F, Benedikz J, Thorsteinsdottir U, Gulcher J, Kong A, Stefansson K. Stefansson H, et al. Among authors: jonsson t. Nat Genet. 2009 Mar;41(3):277-9. doi: 10.1038/ng.299. Epub 2009 Feb 1. Nat Genet. 2009. PMID: 19182806 Free PMC article.
TREM2 and neurodegenerative disease.
Jonsson T, Stefansson K. Jonsson T, et al. N Engl J Med. 2013 Oct 17;369(16):1568-9. doi: 10.1056/NEJMc1306509. N Engl J Med. 2013. PMID: 24131183 No abstract available.
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
Thorgeirsson TE, Geller F, Sulem P, Rafnar T, Wiste A, Magnusson KP, Manolescu A, Thorleifsson G, Stefansson H, Ingason A, Stacey SN, Bergthorsson JT, Thorlacius S, Gudmundsson J, Jonsson T, Jakobsdottir M, Saemundsdottir J, Olafsdottir O, Gudmundsson LJ, Bjornsdottir G, Kristjansson K, Skuladottir H, Isaksson HJ, Gudbjartsson T, Jones GT, Mueller T, Gottsäter A, Flex A, Aben KKH, de Vegt F, Mulders PFA, Isla D, Vidal MJ, Asin L, Saez B, Murillo L, Blondal T, Kolbeinsson H, Stefansson JG, Hansdottir I, Runarsdottir V, Pola R, Lindblad B, van Rij AM, Dieplinger B, Haltmayer M, Mayordomo JI, Kiemeney LA, Matthiasson SE, Oskarsson H, Tyrfingsson T, Gudbjartsson DF, Gulcher JR, Jonsson S, Thorsteinsdottir U, Kong A, Stefansson K. Thorgeirsson TE, et al. Among authors: jonsson s, jonsson t. Nature. 2008 Apr 3;452(7187):638-642. doi: 10.1038/nature06846. Nature. 2008. PMID: 18385739 Free PMC article.
A susceptibility gene for late-onset idiopathic Parkinson's disease.
Hicks AA, Pétursson H, Jónsson T, Stefánsson H, Jóhannsdóttir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefánsson K, Sveinbjörnsdóttir S. Hicks AA, et al. Among authors: jonsson t. Ann Neurol. 2002 Nov;52(5):549-55. doi: 10.1002/ana.10324. Ann Neurol. 2002. PMID: 12402251
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Thorleifsson G, et al. Among authors: jonsson t. Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9. Science. 2007. PMID: 17690259
342 results