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, Basak 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, Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. Ann Clin Transl Neurol. 2024 Jul; 11(7):1775-1786.