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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Issue Date
Title
Author(s)
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
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
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
3
D'Adamo, Maria Cristina
2
Imbrici, Paola
1
Al-Owain, Mohammed A.
1
Al-Sagheir, Afaf
1
Arning, Larissa
1
Balobaid, Ameera
1
Bernasconi, Pia
1
Biscarini, Andrea
1
Biskup, Saskia
.
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Subject
1
Acetazolamide
1
Articulation disorders
1
Ataxia -- Genetic aspects
1
Stoichiometry
1
Xenopus laevis