Showing results 20 to 39 of 51
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Issue Date | Title | Author(s) |
2006 | Episodic 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/Kvβ1.2 | Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro |
2004 | An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+ | Cusimano, Antonella; D'Adamo, Maria Cristina; Pessia, Mauro |
1998 | Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel | D'Adamo, Maria Cristina; Liu, Zhaoping; Adelman, John P.; Maylie, James G.; Pessia, Mauro |
2007 | Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene | Imbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Cudia, Paola; De Grandis, Domenico; Ferlini, Alessandra; Pessia, Mauro |
2003 | Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels | Imbrici, Paola; Cusimano, Antonella; D'Adamo, Maria Cristina; Curtis, Amalia de; Pessia, Mauro |
2016 | Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy | Sicca, 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 |
2011 | Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2/pH sensitivity | D'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J. |
2014 | Genetically induced dysfunctions of Kir2.1 channels : implications for short QT3 syndrome and autism-epilepsy phenotype | Ambrosini, 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 |
2013 | High dose of 8-OH-DPAT decreases maximal dentate gyrus activation and facilitates granular cell plasticity in vivo | Orban, Gergely; Pierucci, Massimo; Benigno, Arcangelo; Pessia, Mauro; Galati, Salvatore; Valentino, Mario; Muscat, Richard; Di Giovanni, Giuseppe |
2003 | Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels | Casamassima, Maria; D'Adamo, Maria Cristina; Pessia, Mauro; Tucker, Stephen J. |
2013 | In vivo microdialysis to study striatal dopaminergic neurodegeneration | Di Giovanni, Giuseppe; Pierucci, Massimo; Pessia, Mauro; Di Matteo, Vincenzo |
2013 | K+ channelepsy : progress in the neurobiology of potassium channels and epilepsy | D'Adamo, Maria Cristina; Catacuzzeno, Luigi; Di Giovanni, Giuseppe; Franciolini, Fabio; Pessia, Mauro |
2016 | KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability | Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary Bandary; Hasan, Sonia M.; Muccioli, Maria; Almutairi, Faten B.; Almass, Rawan; Aldosary, Mazhor S.; Monies, Dorota Marta; Mustafa, Osama M.; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Ewa A.; Binhumaid, Faisal S.; Qari, Alya A.; Almutairi, Fatema; Meyer, Brian Francis; Plageman, Timothy F.; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed A. |
2011 | The Kir5.1 potassium channel is an important determinant of neuronal PCO2/pH sensitivity | D'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J. |
2012 | Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature | Brunetti, 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 |
2017 | Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay | Hasan, Sonia M.; Balobaid, Ameera; Grottesi, Alessandro; Dabbagh, Omar; Cenciarini, Marta; Rawashdeh, Rifaat; Al-Sagheir, Afaf; Bove, Cecilia; Macchioni, Lara; Pessia, Mauro; Al-Owain, Mohammed A.; D'Adamo, Maria Cristina |
1999 | Localization and age-dependent expression of the inward rectifier K+ channel subunit Kir 5.1 in a mammalian reproductive system | Salvatore, Lorena; D'Adamo, Maria Cristina; Polishchuk, Roman S.; Salmona, Mario; Pessia, Mauro |
2014 | A method to identify tissue cell subpopulations with distinct multi-molecular profiles from data on co-localization of two markers at a time : the case of sensory ganglia | Catacuzzeno, Luigi; Sforna, Luigi; D'Adamo, Maria Cristina; Pessia, Mauro; Franciolini, Fabio |
1999 | Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function | D'Adamo, Maria Cristina; Imbrici, Paola; Sponcichetti, Fabio; Pessia, Mauro |
2008 | A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 | Imbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Masieri, Marina Taddei; Cudia, Paola; De Grandis, Domenico; Mannucci, Roberta; Nicoletti, Ildo; Tucker, Stephen J.; Ferlini, Alessandra; Pessia, Mauro |