These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H. Acta Neuropathol; 2019 Aug; 138(2):237-250. PubMed ID: 31131421 [Abstract] [Full Text] [Related]
3. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Genome Res; 2017 Jan; 27(1):165-173. PubMed ID: 28003435 [Abstract] [Full Text] [Related]
8. Systematic review and meta-analysis of human transcriptomics reveals neuroinflammation, deficient energy metabolism, and proteostasis failure across neurodegeneration. Noori A, Mezlini AM, Hyman BT, Serrano-Pozo A, Das S. Neurobiol Dis; 2021 Feb; 149():105225. PubMed ID: 33347974 [Abstract] [Full Text] [Related]
9. Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum. Ji AL, Zhang X, Chen WW, Huang WJ. J Med Genet; 2017 Mar; 54(3):145-154. PubMed ID: 28087719 [Abstract] [Full Text] [Related]
10. The relationship between four GWAS-identified loci in Alzheimer's disease and the risk of Parkinson's disease, amyotrophic lateral sclerosis, and multiple system atrophy. Chen Y, Cao B, Chen X, Ou R, Wei Q, Zhao B, Wu Y, Yuan L, Shang HF. Neurosci Lett; 2018 Nov 01; 686():205-210. PubMed ID: 30144538 [Abstract] [Full Text] [Related]
11. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Giannoccaro MP, Bartoletti-Stella A, Piras S, Pession A, De Massis P, Oppi F, Stanzani-Maserati M, Pasini E, Baiardi S, Avoni P, Parchi P, Liguori R, Capellari S. J Neurol; 2017 Jul 01; 264(7):1426-1433. PubMed ID: 28620717 [Abstract] [Full Text] [Related]
13. Genetics Contributes to Concomitant Pathology and Clinical Presentation in Dementia with Lewy Bodies. van der Lee SJ, van Steenoven I, van de Beek M, Tesi N, Jansen IE, van Schoor NM, Reinders MJT, Huisman M, Scheltens P, Teunissen CE, Holstege H, van der Flier WM, Lemstra AW. J Alzheimers Dis; 2021 Jul 01; 83(1):269-279. PubMed ID: 34308904 [Abstract] [Full Text] [Related]