OAR@UM: Search

Search

Results 11-19 of 19 (Search time: 0.018 seconds).

previous
1
2
next

Item hits:

Issue Date	Title	Author(s)
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
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
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
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
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
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
2020	Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker	Hasan, Sonia; Megaro, Alfredo; Cenciarini, Marta; Coretti, Lorena; Botti, Fabio Massimo; Imbrici, Paola; Steinbusch, Harry W. M.; Hunter, Therese; Hunter, Gary; Pessia, Mauro; D’Adamo, Maria Cristina
2018	Commentary : a channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia	Hasan, Sonia; Hunter, Therese; Hunter, Gary; Pessia, Mauro; D'Adamo, Maria Cristina