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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.
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.
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.
Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.
Ay H, Arsava EM, Andsberg G, Benner T, Brown RD Jr, Chapman SN, Cole JW, Delavaran H, Dichgans M, Engström G, Giralt-Steinhauer E, Grewal RP, Gwinn K, Jern C, Jimenez-Conde J, Jood K, Katsnelson M, Kissela B, Kittner SJ, Kleindorfer DO, Labovitz DL, Lanfranconi S, Lee JM, Lehm M, Lemmens R, Levi C, Li L, Lindgren A, Markus HS, McArdle PF, Melander O, Norrving B, Peddareddygari LR, Pedersén A, Pera J, Rannikmäe K, Rexrode KM, Rhodes D, Rich SS, Roquer J, Rosand J, Rothwell PM, Rundek T, Sacco RL, Schmidt R, Schürks M, Seiler S, Sharma P, Slowik A, Sudlow C, Thijs V, Woodfield R, Worrall BB, Meschia JF. Ay H, et al. Stroke. 2014 Dec;45(12):3589-96. doi: 10.1161/STROKEAHA.114.007362. Epub 2014 Nov 6. Stroke. 2014. PMID: 25378430 Free PMC article.
Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study.
Giese AK, Schirmer MD, Donahue KL, Cloonan L, Irie R, Winzeck S, Bouts MJRJ, McIntosh EC, Mocking SJ, Dalca AV, Sridharan R, Xu H, Frid P, Giralt-Steinhauer E, Holmegaard L, Roquer J, Wasselius J, Cole JW, McArdle PF, Broderick JP, Jimenez-Conde J, Jern C, Kissela BM, Kleindorfer DO, Lemmens R, Lindgren A, Meschia JF, Rundek T, Sacco RL, Schmidt R, Sharma P, Slowik A, Thijs V, Woo D, Worrall BB, Kittner SJ, Mitchell BD, Rosand J, Golland P, Wu O, Rost NS. Giese AK, et al. Neurol Genet. 2017 Aug 24;3(5):e180. doi: 10.1212/NXG.0000000000000180. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852707 Free PMC article.
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