Showing results 5 to 24 of 29
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Issue Date | Title | Author(s) |
2001 | Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1 | Pessia, Mauro; Imbrici, Paola; D'Adamo, Maria Cristina; Salvatore, Lorena; Tucker, Stephen J. |
2012 | Dysfunction of voltage-gated K + Channels Kv1.1 in sciatic nerve causes spontaneous and stress-induced neuromuscular hyperexcitability | Brunetti, Orazio; Imbrici, Paola; Botti, Fabio Massimo; Pettorossi, Vito Enrico; D’Adamo, Maria Cristina; Valentino, Mario; Zammit, Christian; Mora, Marina; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro |
2011 | The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy | D’Adamo, Maria Cristina; Moro, Francesca; Imbrici, Paola; Martino, Dianda; Roscini, Mauro; Santorelli, Filippo Maria; Sicca, Federico; Pessia, Mauro |
2007 | Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1 | Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; Pessia, Mauro |
2011 | Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domain | Imbrici, Paola; D'Adamo, Maria Cristina; Grottesi, Alessandro; Biscarini, Andrea; Pessia, Mauro |
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 |
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 |
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 |
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 | 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 |
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 |
2015 | New insights into the pathogenesis and therapeutics of episodic ataxia type 1 | D'Adamo, Maria Cristina; Hasan, Sonia M.; Guglielmi, Luca; Servettini, Ilenio; Cenciarini, Marta; Catacuzzeno, Luigi; Franciolini, Fabio |
2017 | A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions | Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Felice Mangiatordi, Giuseppe; Neri, Marcella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois |