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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis.
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Moll T, Marshall JNG, Harvey C, Nezhad HG, Franklin J, Souza CDS, Ning K, Wang C, Li J, Dilliott AA, Farhan S, Elhaik E, Pasniceanu I, Livesey MR, Eitan C, Hornstein E, Kenna KP; Project MinE ALS Sequencing Consortium; Veldink JH, Ferraiuolo L, Shaw PJ, Snyder MP. Zhang S, et al. Among authors: franklin j. Neuron. 2022 Mar 16;110(6):992-1008.e11. doi: 10.1016/j.neuron.2021.12.019. Epub 2022 Jan 18. Neuron. 2022. PMID: 35045337 Free PMC article.
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Among authors: franklin jp. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 Free PMC article.
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
Moll T, Odon V, Harvey C, Collins MO, Peden A, Franklin J, Graves E, Marshall JN, Dos Santos Souza C, Zhang S, Castelli L, Hautbergue G, Azzouz M, Gordon D, Krogan N, Ferraiuolo L, Snyder MP, Shaw PJ, Rehwinkel J, Cooper-Knock J. Moll T, et al. Among authors: franklin j. Life Sci Alliance. 2022 Oct 14;6(1):e202201449. doi: 10.26508/lsa.202201449. Print 2023 Jan. Life Sci Alliance. 2022. PMID: 36241425 Free PMC article.
Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion.
Ghahremani Nezhad H, Franklin JP, Alix JJP, Moll T, Pattrick M, Cooper-Knock J, Shanmugarajah P, Beauchamp NJ, Hadjivissiliou M, Paling D, Mcdermott C, Shaw PJ, Jenkins TM. Ghahremani Nezhad H, et al. Among authors: franklin jp. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):579-582. doi: 10.1080/21678421.2020.1853172. Epub 2020 Dec 7. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33284045 Free article.
Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Among authors: franklin jp. Cell Rep. 2021 Feb 2;34(5):108730. doi: 10.1016/j.celrep.2021.108730. Cell Rep. 2021. PMID: 33535055 Free PMC article. No abstract available.
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group. Miller TM, et al. N Engl J Med. 2022 Sep 22;387(12):1099-1110. doi: 10.1056/NEJMoa2204705. N Engl J Med. 2022. PMID: 36129998 Free article. Clinical Trial.
Damage to tropical forests caused by cyclones is driven by wind speed but mediated by topographical exposure and tree characteristics.
Ibanez T, Bauman D, Aiba SI, Arsouze T, Bellingham PJ, Birkinshaw C, Birnbaum P, Curran TJ, DeWalt SJ, Dwyer J, Fourcaud T, Franklin J, Kohyama TS, Menkes C, Metcalfe DJ, Murphy H, Muscarella R, Plunkett GM, Sam C, Tanner E, Taylor BN, Thompson J, Ticktin T, Tuiwawa MV, Uriarte M, Webb EL, Zimmerman JK, Keppel G. Ibanez T, et al. Among authors: franklin j. Glob Chang Biol. 2024 May;30(5):e17317. doi: 10.1111/gcb.17317. Glob Chang Biol. 2024. PMID: 38747199
1,333 results