Showing results 19 to 38 of 44
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| Issue Date | Title | Author(s) |
| 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 |
| 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 |
| 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 |
| 1996 | Morphological and hemostatic changes in rats with abdominal arterial prosthesis | Chabielska, Ewa; Kolpakov, Valeri A.; D'Adamo, Maria Cristina; Curtis, Amalia de; Buczko, Wlodizimierz X.; Iacoviello, Licia; Donati, Maria Benedetta |
| 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 |
| 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 |
| 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 |
| 2015 | Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene | D'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 |
| 2015 | De novo point mutations in patients diagnosed with ataxic cerebral palsy | Parolin Schnekenberg, Ricardo; Perkins, Emma M.; Miller, Jack W.; Davies, Wayne L.; D'Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A.; Sims, David; Gillard, Elodie; Hudspith, Karl A. Z.; Skehel, Paul A.; Williams, Jonathan; O'Regan, Mary E.; Jayawant, Sandeep S.; Jefferson, Rosalind J.; Hughes, Sarah M.; Lustenberger, Andrea; Ragoussis, Jiannis; Jackson, Mandy; Tucker, Stephen J.; Nemeth, Andrea H. |
