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2-Deoxy-d-Glucose Ameliorates PKD Progression.
Chiaravalli M, Rowe I, Mannella V, Quilici G, Canu T, Bianchi V, Gurgone A, Antunes S, D'Adamo P, Esposito A, Musco G, Boletta A. Chiaravalli M, et al. J Am Soc Nephrol. 2016 Jul;27(7):1958-69. doi: 10.1681/ASN.2015030231. Epub 2015 Nov 3. J Am Soc Nephrol. 2016. PMID: 26534924 Free PMC article.
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
Bianchi V, Farisello P, Baldelli P, Meskenaite V, Milanese M, Vecellio M, Mühlemann S, Lipp HP, Bonanno G, Benfenati F, Toniolo D, D'Adamo P. Bianchi V, et al. Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1. Hum Mol Genet. 2009. PMID: 18829665 Free PMC article.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Giannandrea M, et al. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011. Am J Hum Genet. 2010. PMID: 20159109 Free PMC article.
Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region.
Capossela S, Muzio L, Bertolo A, Bianchi V, Dati G, Chaabane L, Godi C, Politi LS, Biffo S, D'Adamo P, Mallamaci A, Pannese M. Capossela S, et al. Am J Pathol. 2012 Mar;180(3):1121-1135. doi: 10.1016/j.ajpath.2011.12.008. Epub 2012 Jan 9. Am J Pathol. 2012. PMID: 22234171 Free article.
131 results