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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: moll t. 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.
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ. Cooper-Knock J, et al. Among authors: moll t. Cell Rep. 2019 Feb 26;26(9):2298-2306.e5. doi: 10.1016/j.celrep.2019.02.006. Cell Rep. 2019. PMID: 30811981 Free PMC article.
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ, Hanna MG. Franklin JP, et al. Among authors: moll t. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(7-8):627-630. doi: 10.1080/21678421.2020.1786128. Epub 2020 Jul 3. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32619119 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: moll t. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 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: moll t. 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: moll t. 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.
Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes.
Julian TH, Glascow N, Barry ADF, Moll T, Harvey C, Klimentidis YC, Newell M, Zhang S, Snyder MP, Cooper-Knock J, Shaw PJ. Julian TH, et al. Among authors: moll t. EBioMedicine. 2021 Jun;68:103397. doi: 10.1016/j.ebiom.2021.103397. Epub 2021 May 26. EBioMedicine. 2021. PMID: 34051439 Free PMC article.
Advances in the genetic classification of amyotrophic lateral sclerosis.
Cooper-Knock J, Harvey C, Zhang S, Moll T, Timpanaro IS, Kenna KP, Iacoangeli A, Veldink JH. Cooper-Knock J, et al. Among authors: moll t. Curr Opin Neurol. 2021 Oct 1;34(5):756-764. doi: 10.1097/WCO.0000000000000986. Curr Opin Neurol. 2021. PMID: 34343141 Free PMC article. Review.
165 results