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2020 2
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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. 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.
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T, Shelkovnikova T, Castelli L, Hautbergue GM, Hewitt C, Kirby J, Wharton SB, Mead RJ, Shaw PJ. Cooper-Knock J, et al. Brain Pathol. 2023 Jan;33(1):e13104. doi: 10.1111/bpa.13104. Epub 2022 Jul 24. Brain Pathol. 2023. PMID: 35871544 Free PMC article.
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Kozhaya L, Unutmaz D, Harvey C, Julian TH, Furini S, Frullanti E, Fava F, Renieri A, Gao P, Shen X, Timpanaro IS, Kenna KP, Baillie JK, Davis MM, Tsao PS, Snyder MP. Zhang S, et al. Cell Syst. 2022 Aug 17;13(8):598-614.e6. doi: 10.1016/j.cels.2022.05.007. Epub 2022 Jun 3. Cell Syst. 2022. PMID: 35690068 Free PMC article.
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. 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.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Gilley J, et al. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. Elife. 2021. PMID: 34796871 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. 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. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 Free PMC article.