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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. 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: pardina jsm. 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.
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: pardina jsm. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Dekker AM, Diekstra FP, Pulit SL, Tazelaar GHP, van der Spek RA, van Rheenen W, van Eijk KR, Calvo A, Brunetti M, Damme PV, Robberecht W, Hardiman O, McLaughlin R, Chiò A, Sendtner M, Ludolph AC, Weishaupt JH, Pardina JSM, van den Berg LH, Veldink JH. Dekker AM, et al. Among authors: pardina jsm. Sci Rep. 2019 Apr 11;9(1):5931. doi: 10.1038/s41598-019-42091-3. Sci Rep. 2019. PMID: 30976013 Free PMC article.
Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial.
Cudkowicz ME, van den Berg LH, Shefner JM, Mitsumoto H, Mora JS, Ludolph A, Hardiman O, Bozik ME, Ingersoll EW, Archibald D, Meyers AL, Dong Y, Farwell WR, Kerr DA; EMPOWER investigators. Cudkowicz ME, et al. Lancet Neurol. 2013 Nov;12(11):1059-67. doi: 10.1016/S1474-4422(13)70221-7. Epub 2013 Sep 23. Lancet Neurol. 2013. PMID: 24067398 Clinical Trial.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Among authors: pardina jsm. Ann Clin Transl Neurol. 2024 May 22. doi: 10.1002/acn3.52083. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free article.