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Results 21-26 of 26 (Search time: 0.014 seconds).
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Issue DateTitleAuthor(s)
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.
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
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
2015Animal models of episodic ataxia type 1 (EA1)D'Adamo, Maria Cristina; Di Giovanni, Giuseppe; Pessia, Mauro
2017Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delayHasan, 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
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, Amalia de; Pessia, Mauro

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