Browsing by Subject Ataxia

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Showing results 1 to 20 of 20
Issue DateTitleAuthor(s)
2017Angelman syndrome : identification and managementBonello, Daniela; Camilleri, Francesca; Calleja-Agius, Jean
2017A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaHasan, Sonia M.; Bove, Cecilia; Silvestri, Gabriella; Mantuano, Elide; Modoni, Anna; Veneziano, Liana; Macchioni, Lara; Hunter, Therese; Hunter, Gary J.; Pessia, Mauro; D'Adamo, Maria Cristina
2012Dysfunction of voltage-gated K + Channels Kv1.1 in sciatic nerve causes spontaneous and stress-induced neuromuscular hyperexcitabilityBrunetti, 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
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
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
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
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
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
2006The fly as a model for neurodegenerative diseases : is it worth the jump?Cauchi, Ruben J.; van den Heuvel, Marcel
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
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
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
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
1999Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel functionD'Adamo, Maria Cristina; Imbrici, Paola; Sponcichetti, Fabio; Pessia, Mauro
2015New insights into the pathogenesis and therapeutics of episodic ataxia type 1D'Adamo, Maria Cristina; Hasan, Sonia M.; Guglielmi, Luca; Servettini, Ilenio; Cenciarini, Marta; Catacuzzeno, Luigi; Franciolini, Fabio
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
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
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
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.