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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. Among authors: veldink jh. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: veldink jh. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Among authors: veldink jh. Nat Commun. 2023 Dec 4;14(1):8026. doi: 10.1038/s41467-023-43710-4. Nat Commun. 2023. PMID: 38049418 Free PMC article. No abstract available.
Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.
Van Wijk IF, Van Eijk RPA, Van Boxmeer L, Westeneng HJ, Van Es MA, Van Rheenen W, Van Den Berg LH, Eijkemans MJC, Veldink JH. Van Wijk IF, et al. Among authors: veldink jh. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):188-196. doi: 10.1080/21678421.2023.2272187. Epub 2024 Jan 23. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37861203
Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
de Boer EMJ, Demaegd KC, de Bie CI, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. Among authors: veldink jh. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):53-60. doi: 10.1080/21678421.2023.2255621. Epub 2023 Sep 7. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37679883 Review.
Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study.
Melka D, Demisse H, Assefa H, Zenebe Y, A Ayele B, Awraris M, Gelan Y, Kifelew S, Fedlu M, Tsehayneh F, Zebenigus M, Alemayehu S, Tesfaye H, Gulelat H, Guta T, Tafesse A, Bekele N, Saez M, Veldink JH, Al-Chalabi A, Povedano M, Al Khleifat A. Melka D, et al. Among authors: veldink jh. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Jul 26:1-9. doi: 10.1080/21678421.2023.2238016. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37496277
Frequency of euthanasia, factors associated with end-of-life practices, and quality of end-of-life care in patients with amyotrophic lateral sclerosis in the Netherlands: a population-based cohort study.
van Eenennaam RM, Kruithof W, Beelen A, Bakker LA, van Eijk RPA, Maessen M, Baardman JF, Visser-Meily JMA, Veldink JH, van den Berg LH. van Eenennaam RM, et al. Among authors: veldink jh. Lancet Neurol. 2023 Jul;22(7):591-601. doi: 10.1016/S1474-4422(23)00155-2. Lancet Neurol. 2023. PMID: 37353279
331 results