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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.
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. 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.