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2013 1
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15 results

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APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.
Chemparathy A, Guen YL, Chen S, Lee EG, Leong L, Gorzynski J, Xu G, Belloy M, Kasireddy N, Tauber AP, Williams K, Stewart I, Wingo T, Lah J, Jayadev S, Hales C, Peskind E, Child DD, Keene CD, Cong L, Ashley E, Yu CE, Greicius MD. Chemparathy A, et al. medRxiv [Preprint]. 2023 Jul 24:2023.07.20.23292771. doi: 10.1101/2023.07.20.23292771. medRxiv. 2023. PMID: 37547016 Free PMC article. Updated. Preprint.
A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated with Increased Risk for FTLD-TDP.
Chemparathy A, Guen YL, Zeng Y, Gorzynski J, Jensen T, Yang C, Kasireddy N, Talozzi L, Belloy ME, Stewart I, Gitler AD, Wagner AD, Mormino E, Henderson VW, Wyss-Coray T, Ashley E, Cruchaga C, Greicius MD. Chemparathy A, et al. medRxiv [Preprint]. 2023 Nov 17:2023.07.06.23292312. doi: 10.1101/2023.07.06.23292312. medRxiv. 2023. PMID: 37461476 Free PMC article. Preprint.
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Jin B, Capra JA, Benchek P, Wheeler N, Naj AC, Hamilton-Nelson KL, Farrell JJ, Leung YY, Kunkle B, Vadarajan B, Schellenberg GD, Mayeux R, Wang LS, Farrer LA, Pericak-Vance MA, Martin ER, Haines JL, Crawford DC, Bush WS. Jin B, et al. Genome Res. 2022 Apr;32(4):778-790. doi: 10.1101/gr.276069.121. Epub 2022 Feb 24. Genome Res. 2022. PMID: 35210353 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Cochran JN, Geier EG, Bonham LW, Newberry JS, Amaral MD, Thompson ML, Lasseigne BN, Karydas AM, Roberson ED, Cooper GM, Rabinovici GD, Miller BL, Myers RM, Yokoyama JS; Alzheimer’s Disease Neuroimaging Initiative. Cochran JN, et al. Am J Hum Genet. 2020 May 7;106(5):632-645. doi: 10.1016/j.ajhg.2020.03.010. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330418 Free PMC article.
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
Beecham GW, Vardarajan B, Blue E, Bush W, Jaworski J, Barral S, DeStefano A, Hamilton-Nelson K, Kunkle B, Martin ER, Naj A, Rajabli F, Reitz C, Thornton T, van Duijn C, Goate A, Seshadri S, Farrer LA, Boerwinkle E, Schellenberg G, Haines JL, Wijsman E, Mayeux R, Pericak-Vance MA; Alzheimer's Disease Sequencing Project. Beecham GW, et al. Neurol Genet. 2018 Nov 21;4(6):e286. doi: 10.1212/NXG.0000000000000286. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30569016 Free PMC article.
15 results