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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, Kawalia A,… See abstract for full author list ➔ van der Lee SJ, et al. 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.
CLU genetic variants and cognitive decline among elderly and oldest old.
Mengel-From J, Thinggaard M, Lindahl-Jacobsen R, McGue M, Christensen K, Christiansen L. Mengel-From J, et al. PLoS One. 2013 Nov 14;8(11):e79105. doi: 10.1371/journal.pone.0079105. eCollection 2013. PLoS One. 2013. PMID: 24244428 Free PMC article. Clinical Trial.
Human longevity and variation in DNA damage response and repair: study of the contribution of sub-processes using competitive gene-set analysis.
Debrabant B, Soerensen M, Flachsbart F, Dato S, Mengel-From J, Stevnsner T, Bohr VA, Kruse TA, Schreiber S, Nebel A, Christensen K, Tan Q, Christiansen L. Debrabant B, et al. Eur J Hum Genet. 2014 Sep;22(9):1131-6. doi: 10.1038/ejhg.2013.299. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518833 Free PMC article.
73 results