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Page 1
Tau positron emission tomography imaging in C9orf72 repeat expansion carriers.
Ly CV, Koenig L, Christensen J, Gordon B, Beaumont H, Dahiya S, Chen J, Su Y, Nelson B, Jockel-Balsarotti J, Drain C, Jerome G, Morris JC, Fagan AM, Harms MB, Benzinger TLS, Miller TM, Ances BM. Ly CV, et al. Among authors: miller tm. Eur J Neurol. 2019 Sep;26(9):1235-1239. doi: 10.1111/ene.13940. Epub 2019 Mar 25. Eur J Neurol. 2019. PMID: 30790403 Free PMC article.
C9orf72 is required for proper macrophage and microglial function in mice.
O'Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH. O'Rourke JG, et al. Among authors: miller tm. Science. 2016 Mar 18;351(6279):1324-9. doi: 10.1126/science.aaf1064. Science. 2016. PMID: 26989253 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: miller tm. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Identifying patterns in amyotrophic lateral sclerosis progression from sparse longitudinal data.
Ramamoorthy D, Severson K, Ghosh S, Sachs K; Answer ALS; Glass JD, Fournier CN; Pooled Resource Open-Access ALS Clinical Trials Consortium; ALS/MND Natural History Consortium; Herrington TM, Berry JD, Ng K, Fraenkel E. Ramamoorthy D, et al. Nat Comput Sci. 2022 Sep;2(9):605-616. doi: 10.1038/s43588-022-00299-w. Epub 2022 Sep 8. Nat Comput Sci. 2022. PMID: 38177466 Free PMC article.
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease.
Šušnjar U, Škrabar N, Brown AL, Abbassi Y, Phatnani H; NYGC ALS Consortium; Cortese A, Cereda C, Bugiardini E, Cardani R, Meola G, Ripolone M, Moggio M, Romano M, Secrier M, Fratta P, Buratti E. Šušnjar U, et al. Commun Biol. 2022 Apr 5;5(1):314. doi: 10.1038/s42003-022-03253-8. Commun Biol. 2022. PMID: 35383280 Free PMC article.
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
295 results