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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: seri m. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: seri m. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.
311 results