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Results 1-10 of 17 (Search time: 0.018 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
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Parolin 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.
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
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
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
2012
Episodic ataxia type 1
D'Adamo, Maria Cristina
;
Hanna, Michael G.
;
Di Giovanni, Giuseppe
;
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
Discover
Author
10
Imbrici, Paola
3
Cusimano, Antonella
3
Di Giovanni, Giuseppe
3
Ferlini, Alessandra
3
Grottesi, Alessandro
3
Gualandi, Francesca
3
Tucker, Stephen J.
2
Bove, Cecilia
2
Cudia, Paola
.
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Subject
11
Potassium channels
3
Ion channels
3
Myokymia
2
Electrophysiology
2
Neurophysiologic monitoring
1
Acetazolamide
1
Articulation disorders
1
Ataxia -- Genetic aspects
1
Ataxia telangiectasia -- Genetic ...
.
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