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Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: zorzi g. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.
Paroxysmal dyskinesias in childhood.
Zorzi G, Conti C, Erba A, Granata T, Angelini L, Nardocci N. Zorzi G, et al. Pediatr Neurol. 2003 Mar;28(3):168-72. doi: 10.1016/s0887-8994(02)00512-x. Pediatr Neurol. 2003. PMID: 12770667
253 results