Browsing by Author Grottesi, Alessandro

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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)
2011Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1Sicca, Federico; Imbrici, Paola; D'Adamo, Maria Cristina; Moro, Francesca; Bonatti, Fabrizia; Brovedani, Paola; Grottesi, Alessandro; Guerrini, Renzo; Masi, Gabriele; Santorelli, Filippo Maria; Pessia, Mauro
2016A Calsequestrin-1 mutation associated with a skeletal muscle disease alters sarcoplasmic Ca2+ releaseD'Adamo, Maria Cristina; Sforna, Luigi; Visentin, Sergio; Grottesi, Alessandro; Servettini, Llenio; Guglielmi, Luca; Macchioni, Lara; Saredi, Simona; Curcio, Maurizio; Nuccio, Chiara de; Hasan, Sonia M.; Corazzi, L.; Franciolini, Fabio; Mora, Marina; Catacuzzeno, Luigi; Pessia, Mauro
2009Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating propertiesImbrici, Paola; Grottesi, Alessandro; D'Adamo, Maria Cristina; Tucker, Stephen J.; Pessia, Mauro
2011Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domainImbrici, Paola; D'Adamo, Maria Cristina; Grottesi, Alessandro; Biscarini, Andrea; Pessia, Mauro
2016Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsySicca, Federico; Ambrosini, Elena; Marchese, Maria; Sforna, Luigi; Servettini, Ilenio; Valvo, Giulia; Brignone, Maria Stefania; Lanciotti, Angela; Moro, Francesca; Grottesi, Alessandro; Catacuzzeno, Luigi; Baldini, Sara; Hasan, Sonia M.; D'Adamo, Maria Cristina; Franciolini, Fabio; Molinari, Paola; Santorelli, Filippo Maria; Pessia, Mauro
2014Genetically induced dysfunctions of Kir2.1 channels : implications for short QT3 syndrome and autism-epilepsy phenotypeAmbrosini, Elena; Sicca, Federico; Brignone, Maria Stefania; D'Adamo, Maria Cristina; Napolitano, Carlo; Servettini, Ilenio; Moro, Francesca; Ruan, Yanfei; Guglielmi, Luca; Pieroni, Stefania; Servillo, Giuseppe; Lanciotti, Angela; Valvo, Giulia; Catacuzzeno, Luigi; Franciolini, Fabio; Molinari, Paola; Marchese, Maria; Grottesi, Alessandro; Guerrini, Renzo; Santorelli, Filippo Maria; Priori, Silvia Giuliana; Pessia, Mauro
2017Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delayHasan, Sonia; Balobaid, Ameera; Grottesi, Alessandro; Dabbagh, Omar; Cenciarini, Marta; Rawashdeh, Rifaat; Al-Sagheir, Afaf; Bove, Cecilia; Macchioni, Lara; Pessia, Mauro; Al-Owain, Mohammed; D'Adamo, Maria Cristina
2015Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneD'Adamo, Maria Cristina; Gallenmuller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro; Klopstock, Thomas
2015Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneD'Adamo, Maria Cristina; Gallenmuller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro; Klopstock, Thomas