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Page 1
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. Among authors: van den berg l, van der spek r, van es m, van damme p, van rheenen w, van vugt j, van eijk k. 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.
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… See abstract for full author list ➔ Nicolas A, et al. Among authors: van es ma, van eijk kr, van blitterswijk m, van eyk je, van vugt jjfa, van der spek ra, van damme p, van den berg lh, van rheenen w, van den bosch l, van deerlin vm. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.
Tazelaar GHP, Boeynaems S, De Decker M, van Vugt JJFA, Kool L, Goedee HS, McLaughlin RL, Sproviero W, Iacoangeli A, Moisse M, Jacquemyn M, Daelemans D, Dekker AM, van der Spek RA, Westeneng HJ, Kenna KP, Assialioui A, Da Silva N; Project MinE ALS Sequencing Consortium; Povedano M, Pardina JSM, Hardiman O, Salachas F, Millecamps S, Vourc'h P, Corcia P, Couratier P, Morrison KE, Shaw PJ, Shaw CE, Pasterkamp RJ, Landers JE, Van Den Bosch L, Robberecht W, Al-Chalabi A, van den Berg LH, Van Damme P, Veldink JH, van Es MA. Tazelaar GHP, et al. Among authors: van es ma, van vugt jjfa, van der spek ra, van den berg lh, van damme p, van den bosch l. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. Hop PJ, et al. Among authors: van es ma, van eijk kr, van vugt jjfa, van den berg lh, van damme p, van rheenen w. Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. Sci Transl Med. 2022. PMID: 35196023 Free PMC article.
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Mehta PR, Iacoangeli A, Opie-Martin S, van Vugt JJFA, Al Khleifat A, Bredin A, Ossher L, Andersen PM, Hardiman O, Mehta AR, Fratta P, Talbot K; Project MinE ALS Sequencing Consortium; Al-Chalabi A. Mehta PR, et al. Among authors: van vugt jjfa. Brain. 2022 Dec 19;145(12):4440-4447. doi: 10.1093/brain/awac279. Brain. 2022. PMID: 36162820 Free PMC article.
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Tazelaar GHP, Hop PJ, Seelen M, van Vugt JJFA, van Rheenen W, Kool L, van Eijk KR, Gijzen M, Dooijes D, Moisse M, Calvo A, Moglia C, Brunetti M, Canosa A, Nordin A, Pardina JSM, Ravits J, Al-Chalabi A, Chio A, McLaughlin RL, Hardiman O, Van Damme P, de Carvalho M, Neuwirth C, Weber M, Andersen PM, van den Berg LH, Veldink JH, van Es MA. Tazelaar GHP, et al. Among authors: van es ma, van eijk kr, van vugt jjfa, van damme p, van den berg lh, van rheenen w. Neurobiol Aging. 2023 Feb;122:76-87. doi: 10.1016/j.neurobiolaging.2022.11.010. Epub 2022 Nov 17. Neurobiol Aging. 2023. PMID: 36521271 Free 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. Among authors: van es ma, van eijk kr, van vugt jjfa, van damme p, van den berg lh, van rheenen w, van der spek raa. 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.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: van vugt jjfa. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
354 results