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Browsing by Subject Ataxia
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Showing results 1 to 20 of 22
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Issue Date
Title
Author(s)
2017
Angelman syndrome : identification and management
Bonello, Daniela
;
Camilleri, Francesca
;
Calleja-Agius, Jean
2017
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Hasan, 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
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 J.
;
Pessia, Mauro
;
D'Adamo, Maria Cristina
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 J.
;
Pessia, Mauro
;
D’Adamo, Maria Cristina
2012
Episodic ataxia type 1
D'Adamo, Maria Cristina
;
Hanna, Michael G.
;
Di Giovanni, Giuseppe
;
Pessia, Mauro
2007
Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Cusimano, Antonella
;
Pessia, Mauro
2011
Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domain
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Grottesi, Alessandro
;
Biscarini, Andrea
;
Pessia, Mauro
2006
Episodic 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/Kvβ1.2
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Kullmann, Dimitri M.
;
Pessia, Mauro
2004
An 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
1998
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel
D'Adamo, Maria Cristina
;
Liu, Zhaoping
;
Adelman, John P.
;
Maylie, James G.
;
Pessia, Mauro
2006
The fly as a model for neurodegenerative diseases : is it worth the jump?
Cauchi, Ruben J.
;
van den Heuvel, Marcel
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
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
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
1999
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function
D'Adamo, Maria Cristina
;
Imbrici, Paola
;
Sponcichetti, Fabio
;
Pessia, Mauro
2015
New insights into the pathogenesis and therapeutics of episodic ataxia type 1
D'Adamo, Maria Cristina
;
Hasan, Sonia M.
;
Guglielmi, Luca
;
Servettini, Ilenio
;
Cenciarini, Marta
;
Catacuzzeno, Luigi
;
Franciolini, Fabio
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
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