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Page 1
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: kenna bj. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 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: kenna bj. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Moisse M, Zwamborn RAJ, van Vugt J, van der Spek R, van Rheenen W, Kenna B, Van Eijk K, Kenna K, Corcia P, Couratier P, Vourc'h P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Chen X, Eberle MA, Al-Chalabi A, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, Robberecht W, van Es M, van den Berg L, Veldink J, Van Damme P; Project MinE Sequencing Consortium. Moisse M, et al. Ann Neurol. 2021 Apr;89(4):686-697. doi: 10.1002/ana.26009. Epub 2021 Jan 15. Ann Neurol. 2021. PMID: 33389754 Free PMC article.
Genetic analysis of ALS cases in the isolated island population of Malta.
Borg R, Farrugia Wismayer M, Bonavia K, Farrugia Wismayer A, Vella M, van Vugt JJFA, Kenna BJ, Kenna KP, Vassallo N, Veldink JH, Cauchi RJ. Borg R, et al. Among authors: kenna bj. Eur J Hum Genet. 2021 Apr;29(4):604-614. doi: 10.1038/s41431-020-00767-9. Epub 2021 Jan 7. Eur J Hum Genet. 2021. PMID: 33414559 Free PMC article.
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9. NPJ Genom Med. 2022. PMID: 35091648 Free PMC article.
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. Front Cell Neurosci. 2022 Dec 15;16:1050596. doi: 10.3389/fncel.2022.1050596. eCollection 2022. Front Cell Neurosci. 2022. PMID: 36589292 Free PMC article.
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI; Project MinE ALS Sequencing Consortium; Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Hop PJ, et al. Among authors: kenna bj. Nat Genet. 2024 Jul;56(7):1371-1376. doi: 10.1038/s41588-024-01787-7. Epub 2024 Jun 10. Nat Genet. 2024. PMID: 38858457 Free PMC article.
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B, Vural A, Topp S, Campos Y, Weber M, Smith B, Dobson R, van Es MA, Vourc'h P, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Mill J, Garton F, McRae A, Wray NR, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Van Damme P, McLaughlin RL, van den Berg LH, Veldink JH, Al-Chalabi A, Al Khleifat A. Grant OA, et al. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624866. doi: 10.1101/2024.11.22.624866. bioRxiv. 2024. PMID: 39651197 Free PMC article. Preprint.