Browsing by Author Imbrici, Paola

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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
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
2001Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1Pessia, Mauro; Imbrici, Paola; D'Adamo, Maria Cristina; Salvatore, Lorena; Tucker, Stephen J.
2012Dysfunction of voltage-gated K + Channels Kv1.1 in sciatic nerve causes spontaneous and stress-induced neuromuscular hyperexcitabilityBrunetti, Orazio; Imbrici, Paola; Botti, F. M.; Pettorossi, Vito Enrico; D’Adamo, Maria; Valentino, Mario; Zammit, Christian; Mora, Marina; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro
2011The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsyD’Adamo, Maria Cristina; Moro, Francesca; Imbrici, Paola; Martino, Dianda; Roscini, Mauro; Santorelli, Filippo Maria; Sicca, Federico; Pessia, Mauro
2007Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; 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
2006Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro
2007Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 geneImbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Cudia, Paola; Grandis, Domenico de; Ferlini, Alessandra; Pessia, Mauro
2003Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channelsImbrici, Paola; Cusimano, Antonella; D'Adamo, Maria Cristina; Curtis de, Amalia; Pessia, Mauro
2011Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2/pH sensitivityD'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J.
2011The Kir5.1 potassium channel is an important determinant of neuronal PCO2/pH sensitivityD'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J.
2012Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperatureBrunetti, Orazio; Imbrici, Paola; Botti, Fabio Massimo; Pettorossi, Vito Enrico; D'Adamo, Maria Cristina; Valentino, Mario; Zammit, Christian; Mora, Marina; Gibertini, Sara; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro
1999Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel functionD'Adamo, Maria Cristina; Imbrici, Paola; Sponcichetti, Fabio; Pessia, Mauro
2008A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1Imbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Masieri, Marina Taddei; Cudia, Paola; De Grandis, Domenico; Mannucci, Roberta; Nicoletti, Ildo; Tucker, Stephen J.; Ferlini, Alessandra Alessandra; Pessia, Mauro
2017A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctionsImbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Felice Mangiatordi, Giuseppe; Neri, Marcella; Maria, Giovanni de; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois
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
2000pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epitheliaTucker, Stephen J.; Imbrici, Paola; Salvatore, Lorena; D'Adamo, Maria Cristina; Pessia, Mauro
2000Role of receptor protein tyrosine phosphatase α (RPTPα) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channelsImbrici, Paola; Tucker, Stephen J.; D'Adamo, Maria Cristina; Pessia, Mauro