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Results 21-30 of 36 (Search time: 0.023 seconds).
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Issue DateTitleAuthor(s)
2013K+ channelepsy : progress in the neurobiology of potassium channels and epilepsyD'Adamo, Maria Cristina; Catacuzzeno, Luigi; Di Giovanni, Giuseppe; Franciolini, Fabio; Pessia, Mauro
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
2012Episodic ataxia type 1D'Adamo, Maria Cristina; Hanna, Michael G.; Di Giovanni, Giuseppe; Pessia, Mauro
2004An 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
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.
2016KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityKaya, 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.
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; 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; De Grandis, Domenico; Ferlini, Alessandra; 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, Ilenio; Guglielmi, Luca; Macchioni, Lara; Saredi, Simona; Curcio, Maurizio; Nuccio, Chiara de; Hasan, Sonia M.; Corazzi, L.; Franciolini, Fabio; Mora, Marina; Catacuzzeno, Luigi; 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; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois