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Results 1-10 of 12 (Search time: 0.026 seconds).
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Issue Date
Title
Author(s)
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
2015
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
D'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
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
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
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
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
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
Discover
Author
11
D'Adamo, Maria Cristina
9
Imbrici, Paola
3
Cusimano, Antonella
3
Di Giovanni, Giuseppe
3
Grottesi, Alessandro
2
Botti, Fabio Massimo
2
Brunetti, Orazio
2
Mora, Marina
2
Muscat, Richard
.
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Subject
3
Myokymia
2
Ion channels
2
Sciatic nerve
1
Acetazolamide
1
Articulation disorders
1
Ataxia -- Genetic aspects
1
Ataxia telangiectasia -- Genetic ...
1
Calcium channels
1
Cerebral ischemia -- Diagnosis
.
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