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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. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
Mitropoulos K, Merkouri Papadima E, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos GP. Mitropoulos K, et al. Among authors: akcimen f. Hum Genomics. 2017 Dec 8;11(1):30. doi: 10.1186/s40246-017-0126-2. Hum Genomics. 2017. PMID: 29216901 Free PMC article.
36 results