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16 results

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Page 1
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. ...These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network e …
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. ...The …
Sex-specific genetic predictors of Alzheimer's disease biomarkers.
Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, Haines JL, Zetterberg H, Blennow K, Larson EB, Johnson SC, Albert M, Moghekar A, Del Aguila JL, Fernandez MV, Budde J, Hassenstab J, Fagan AM, Riemenschneider M, Petersen RC, Minthon L, Chao MJ, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Peskind ER, Li G, Davis LK, Sealock JM, Cox NJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetics Consortium (ADGC); Goate AM, Bennett DA, Schneider JA, Jefferson AL, Cruchaga C, Hohman TJ. Deming Y, et al. Acta Neuropathol. 2018 Dec;136(6):857-872. doi: 10.1007/s00401-018-1881-4. Epub 2018 Jul 2. Acta Neuropathol. 2018. PMID: 29967939 Free PMC article.
Cerebrospinal fluid (CSF) levels of amyloid-beta 42 (Abeta42) and tau have been evaluated as endophenotypes in Alzheimer's disease (AD) genetic studies. Although there are sex differences in AD risk, sex differences have not been evaluated in genetic studies of AD endophen …
Cerebrospinal fluid (CSF) levels of amyloid-beta 42 (Abeta42) and tau have been evaluated as endophenotypes in Alzheimer's disease (A …
Canadian Rheumatology Association Meeting Quebec City Convention Centre Quebec City, Quebec, Canada February 8-11, 2023.
Canadian Rheumatology Association. Canadian Rheumatology Association. J Rheumatol. 2023 Jul;50(7 Suppl 1):7-100. doi: 10.3899/jrheum.2023-0216. Epub 2023 Jun 1. J Rheumatol. 2023. PMID: 37263647 Free article.
Highlights of the meeting include the following 2023 Award Winners: Distinguished Rheumatologist, Gilles Boire; Distinguished Investigator, Murray Baron; Distinguished Teacher-Educator, Janet Pope; Emerging Investigator, Lihi Eder; Emerging Teacher-Educator, Steven Thomson; Ian W …
Highlights of the meeting include the following 2023 Award Winners: Distinguished Rheumatologist, Gilles Boire; Distinguished Investigator, …
A structural basis for drug-induced long QT syndrome.
Mitcheson JS, Chen J, Lin M, Culberson C, Sanguinetti MC. Mitcheson JS, et al. Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):12329-33. doi: 10.1073/pnas.210244497. Proc Natl Acad Sci U S A. 2000. PMID: 11005845 Free PMC article.
Mutations in the HERG K(+) channel gene cause inherited long QT syndrome (LQT), a disorder of cardiac repolarization that predisposes affected individuals to lethal arrhythmias [Curran, M. E. , Splawski, I., Timothy, K. W., Vincent, G. M., Green, E. D. & Keating, M. T. …
Mutations in the HERG K(+) channel gene cause inherited long QT syndrome (LQT), a disorder of cardiac repolarization that predisposes affect …
16 results