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Results 1-10 of 17 (Search time: 0.003 seconds).
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Issue DateTitleAuthor(s)
2012Episodic ataxia type 1D'Adamo, Maria Cristina; Hanna, Michael G.; Di Giovanni, Giuseppe; Pessia, Mauro
2007Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; Pessia, Mauro
2006Episodic 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/Kvβ1.2Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro
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 de, Amalia; Pessia, Mauro
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
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 Alessandra; Pessia, Mauro
2015Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneD'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
2011Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domainImbrici, Paola; D'Adamo, Maria Cristina; Grottesi, Alessandro; Biscarini, Andrea; Pessia, Mauro
1998Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channelD'Adamo, Maria Cristina; Liu, Zhaoping; Adelman, John P.; Maylie, James G.; Pessia, Mauro
2015De novo point mutations in patients diagnosed with ataxic cerebral palsyParolin 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.

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