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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM. Tucci V, et al. Among authors: nieus t. J Clin Invest. 2014 Apr;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10. J Clin Invest. 2014. PMID: 24614104 Free PMC article.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. Fruscione F, et al. Among authors: nieus t. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051. Brain. 2018. PMID: 29554219 Free PMC article.
Emergent functional properties of neuronal networks with controlled topology.
Marconi E, Nieus T, Maccione A, Valente P, Simi A, Messa M, Dante S, Baldelli P, Berdondini L, Benfenati F. Marconi E, et al. Among authors: nieus t. PLoS One. 2012;7(4):e34648. doi: 10.1371/journal.pone.0034648. Epub 2012 Apr 6. PLoS One. 2012. PMID: 22493706 Free PMC article.
43 results