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Page 1
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium; Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. Cruchaga C, et al. Among authors: hardy j. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Among authors: hardy j. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease.
Busby V, Goossens S, Nowotny P, Hamilton G, Smemo S, Harold D, Turic D, Jehu L, Myers A, Womick M, Woo D, Compton D, Doil LM, Tacey KM, Lau KF, Al-Saraj S, Killick R, Pickering-Brown S, Moore P, Hollingworth P, Archer N, Foy C, Walter S, Lendon C, Iwatsubo T, Morris JC, Norton J, Mann D, Janssens B, Hardy J, O'Donovan M, Jones L, Williams J, Holmans P, Owen MJ, Grupe A, Powell J, van Hengel J, Goate A, Van Roy F, Lovestone S. Busby V, et al. Among authors: hardy j. Neuromolecular Med. 2004;5(2):133-46. doi: 10.1385/NMM:5:2:133. Neuromolecular Med. 2004. PMID: 15075440
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, Singleton A. Johnson J, et al. Among authors: hardy j. Neurosci Lett. 2004 Jun 10;363(2):99-101. doi: 10.1016/j.neulet.2004.03.070. Neurosci Lett. 2004. PMID: 15172093
Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control study.
Li Y, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Schrodi S, Leong D, Lau K, Catanese J, Sninsky J, Nowotny P, Holmans P, Hardy J, Powell J, Lovestone S, Thal L, Owen M, Williams J, Goate A, Grupe A. Li Y, et al. Among authors: hardy j. Neurosci Lett. 2004 Aug 19;366(3):268-71. doi: 10.1016/j.neulet.2004.05.047. Neurosci Lett. 2004. PMID: 15288432
Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.
Li Y, Nowotny P, Holmans P, Smemo S, Kauwe JS, Hinrichs AL, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Schrodi S, Leong D, Gogic G, Chan J, Cravchik A, Ross D, Lau K, Kwok S, Chang SY, Catanese J, Sninsky J, White TJ, Hardy J, Powell J, Lovestone S, Morris JC, Thal L, Owen M, Williams J, Goate A, Grupe A. Li Y, et al. Among authors: hardy j. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15688-93. doi: 10.1073/pnas.0403535101. Epub 2004 Oct 26. Proc Natl Acad Sci U S A. 2004. PMID: 15507493 Free PMC article.
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Rogaeva E, et al. Among authors: hardy j. Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898. Arch Neurol. 2004. PMID: 15596610
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.
Li Y, Hollingworth P, Moore P, Foy C, Archer N, Powell J, Nowotny P, Holmans P, O'Donovan M, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Lau K, Cantanese J, Sninsky J, Hardy J, Thal L, Morris JC, Goate A, Lovestone S, Owen M, Williams J, Grupe A. Li Y, et al. Among authors: hardy j. Hum Mutat. 2005 Mar;25(3):270-7. doi: 10.1002/humu.20138. Hum Mutat. 2005. PMID: 15714520
Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.
Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell T, Holmans P, Hamshere M, Turic D, Jehu L, Hollingworth P, Moore P, Bryden L, Myers A, Doil LM, Tacey KM, Gibson AM, McKeith IG, Perry RH, Morris CM, Thal L, Morris JC, O'Donovan MC, Lovestone S, Grupe A, Hardy J, Owen MJ, Williams J, Goate A. Nowotny P, et al. Among authors: hardy j. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):62-8. doi: 10.1002/ajmg.b.30186. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15858813
3,489 results