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Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium; van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Smith BN, et al. Among authors: colombrita c. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V. Corrado L, et al. Among authors: colombrita c. J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19861302
Genetics of familial Amyotrophic lateral sclerosis.
Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, Maderna L, Messina S, Ratti A, Silani V. Ticozzi N, et al. Among authors: colombrita c. Arch Ital Biol. 2011 Mar;149(1):65-82. doi: 10.4449/aib.v149i1.1262. Arch Ital Biol. 2011. PMID: 21412717 Review.
ELAV proteins along evolution: back to the nucleus?
Colombrita C, Silani V, Ratti A. Colombrita C, et al. Mol Cell Neurosci. 2013 Sep;56:447-55. doi: 10.1016/j.mcn.2013.02.003. Epub 2013 Feb 22. Mol Cell Neurosci. 2013. PMID: 23439364 Review.
61 results