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Page 1
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
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.
Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.
Beer AM, Cooper-Knock J, Higginbottom A, Highley JR, Wharton SB, Ince PG, Milano A, Jones AA, Al-Chalabi A, Kirby J, Shaw PJ. Beer AM, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):249-51. doi: 10.3109/21678421.2014.977296. Epub 2014 Dec 1. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25436637 No abstract available.
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR; ITALSGEN Consortium, NeuroX Consortium; Kirby J, Shaw PJ. Stopford MJ, et al. Hum Mol Genet. 2017 Mar 15;26(6):1133-1145. doi: 10.1093/hmg/ddx022. Hum Mol Genet. 2017. PMID: 28158451 Free PMC article.
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M; Project MinE ALS Sequencing Consortium; Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ. Cooper-Knock J, et al. Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29170628 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, Laaks… See abstract for full author list ➔ Nicolas A, et al. 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 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.
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.
90 results