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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: wang x. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Among authors: wang x. Mol Neurodegener. 2014 Nov 5;9:44. doi: 10.1186/1750-1326-9-44. Mol Neurodegener. 2014. PMID: 25373618 Free PMC article.
Late-onset Alzheimer disease risk variants mark brain regulatory loci.
Allen M, Kachadoorian M, Carrasquillo MM, Karhade A, Manly L, Burgess JD, Wang C, Serie D, Wang X, Siuda J, Zou F, Chai HS, Younkin C, Crook J, Medway C, Nguyen T, Ma L, Malphrus K, Lincoln S, Petersen RC, Graff-Radford NR, Asmann YW, Dickson DW, Younkin SG, Ertekin-Taner N. Allen M, et al. Among authors: wang x, wang c. Neurol Genet. 2015 Jul 23;1(2):e15. doi: 10.1212/NXG.0000000000000012. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066552 Free PMC article.
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.
Allen M, Burgess JD, Ballard T, Serie D, Wang X, Younkin CS, Sun Z, Kouri N, Baheti S, Wang C, Carrasquillo MM, Nguyen T, Lincoln S, Malphrus K, Murray M, Golde TE, Price ND, Younkin SG, Schellenberg GD, Asmann Y, Ordog T, Crook J, Dickson D, Ertekin-Taner N. Allen M, et al. Among authors: wang x, wang c. Acta Neuropathol. 2016 Aug;132(2):197-211. doi: 10.1007/s00401-016-1576-7. Epub 2016 Apr 26. Acta Neuropathol. 2016. PMID: 27115769 Free PMC article.
Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases.
Allen M, Carrasquillo MM, Funk C, Heavner BD, Zou F, Younkin CS, Burgess JD, Chai HS, Crook J, Eddy JA, Li H, Logsdon B, Peters MA, Dang KK, Wang X, Serie D, Wang C, Nguyen T, Lincoln S, Malphrus K, Bisceglio G, Li M, Golde TE, Mangravite LM, Asmann Y, Price ND, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. Allen M, et al. Among authors: wang x, wang c. Sci Data. 2016 Oct 11;3:160089. doi: 10.1038/sdata.2016.89. Sci Data. 2016. PMID: 27727239 Free PMC article.
A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression.
Carrasquillo MM, Allen M, Burgess JD, Wang X, Strickland SL, Aryal S, Siuda J, Kachadoorian ML, Medway C, Younkin CS, Nair A, Wang C, Chanana P, Serie D, Nguyen T, Lincoln S, Malphrus KG, Morgan K, Golde TE, Price ND, White CC, De Jager PL, Bennett DA, Asmann YW, Crook JE, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. Carrasquillo MM, et al. Among authors: wang x, wang c. Alzheimers Dement. 2017 Jun;13(6):663-673. doi: 10.1016/j.jalz.2016.10.005. Epub 2016 Dec 8. Alzheimers Dement. 2017. PMID: 27939925 Free PMC article.
African American exome sequencing identifies potential risk variants at Alzheimer disease loci.
N'Songo A, Carrasquillo MM, Wang X, Burgess JD, Nguyen T, Asmann YW, Serie DJ, Younkin SG, Allen M, Pedraza O, Duara R, Greig Custo MT, Graff-Radford NR, Ertekin-Taner N. N'Songo A, et al. Among authors: wang x. Neurol Genet. 2017 Apr 7;3(2):e141. doi: 10.1212/NXG.0000000000000141. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28480329 Free PMC article.
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.
DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R, Lucido A, Parsons M, Chew J, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, de Boer J, Asmann YW, Petrucelli L, Boylan KB, Dickson DW, van Blitterswijk M, Rademakers R. DeJesus-Hernandez M, et al. Among authors: wang x. Acta Neuropathol. 2017 Aug;134(2):255-269. doi: 10.1007/s00401-017-1725-7. Epub 2017 May 15. Acta Neuropathol. 2017. PMID: 28508101 Free PMC article.
Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers.
Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Asmann YW, Dickson DW, Benatar M, Bowser R, Boylan KB, Rademakers R, van Blitterswijk M. Finch NA, et al. Among authors: wang x. Neurol Genet. 2017 Jun 7;3(4):e161. doi: 10.1212/NXG.0000000000000161. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28660252 Free PMC article.
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