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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. Among authors: bianchi v. 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.
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.
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
Sauer AV, Hernandez RJ, Fumagalli F, Bianchi V, Poliani PL, Dallatomasina C, Riboni E, Politi LS, Tabucchi A, Carlucci F, Casiraghi M, Carriglio N, Cominelli M, Forcellini CA, Barzaghi F, Ferrua F, Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A. Sauer AV, et al. Among authors: bianchi v. Sci Rep. 2017 Jan 11;7:40136. doi: 10.1038/srep40136. Sci Rep. 2017. PMID: 28074903 Free PMC article.
Down-sizing of neuronal network activity and density of presynaptic terminals by pathological acidosis are efficiently prevented by Diminazene Aceturate.
de Ceglia R, Chaabane L, Biffi E, Bergamaschi A, Ferrigno G, Amadio S, Del Carro U, Mazzocchi N, Comi G, Bianchi V, Taverna S, Forti L, D'Adamo P, Martino G, Menegon A, Muzio L. de Ceglia R, et al. Among authors: bianchi v. Brain Behav Immun. 2015 Mar;45:263-76. doi: 10.1016/j.bbi.2014.12.003. Epub 2014 Dec 12. Brain Behav Immun. 2015. PMID: 25499583
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. Among authors: bianchi v. 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.
Loss of Either Rac1 or Rac3 GTPase Differentially Affects the Behavior of Mutant Mice and the Development of Functional GABAergic Networks.
Pennucci R, Talpo F, Astro V, Montinaro V, Morè L, Cursi M, Castoldi V, Chiaretti S, Bianchi V, Marenna S, Cambiaghi M, Tonoli D, Leocani L, Biella G, D'Adamo P, de Curtis I. Pennucci R, et al. Among authors: bianchi v. Cereb Cortex. 2016 Feb;26(2):873-890. doi: 10.1093/cercor/bhv274. Epub 2015 Nov 17. Cereb Cortex. 2016. PMID: 26582364 Free PMC article.
612 results