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Page 1
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.
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H, Belk JA, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek MR, Ahmad H, Nachun D, Yao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Beiser A, Bick AG, Bis JC, Fornage M, Longstreth WT Jr, Lopez OL, Natarajan P, Psaty BM, Satizabal CL, Weinstock J, Larson EB, Crane PK, Keene CD, Seshadri S, Satpathy AT, Montine TJ, Jaiswal S. Bouzid H, et al. Nat Med. 2023 Jul;29(7):1662-1670. doi: 10.1038/s41591-023-02397-2. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322115 Free PMC article.
Response to Holstege et al.
Cochran JN, Myers RM, Yokoyama JS. Cochran JN, et al. Am J Hum Genet. 2020 Sep 3;107(3):577-578. doi: 10.1016/j.ajhg.2020.07.012. Am J Hum Genet. 2020. PMID: 32888508 Free PMC article. No abstract available.
Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects.
Wang H, Dombroski BA, Cheng PL, Tucci A, Si YQ, Farrell JJ, Tzeng JY, Leung YY, Malamon JS; Alzheimer’s Disease Sequencing Project; Wang LS, Vardarajan BN, Farrer LA, Schellenberg GD, Lee WP. Wang H, et al. medRxiv [Preprint]. 2023 Sep 13:2023.09.13.23295505. doi: 10.1101/2023.09.13.23295505. medRxiv. 2023. PMID: 37745545 Free PMC article. Preprint.
Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects.
Lee WP, Wang H, Dombroski B, Cheng PL, Tucci A, Si YQ, Farrell J, Tzeng JY, Leung YY, Malamon J, Wang LS, Vardarajan B, Farrer L, Schellenberg G; Alzheimer’s Disease Sequencing Project. Lee WP, et al. Res Sq [Preprint]. 2023 Oct 5:rs.3.rs-3353179. doi: 10.21203/rs.3.rs-3353179/v1. Res Sq. 2023. PMID: 37886469 Free PMC article. 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.
28 results