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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Results 1-8 of 8 (Search time: 0.023 seconds).
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Issue Date
Title
Author(s)
2014
Genetically induced dysfunctions of Kir2.1 channels : implications for short QT3 syndrome and autism-epilepsy phenotype
Ambrosini, Elena
;
Sicca, Federico
;
Brignone, Maria Stefania
;
D'Adamo, Maria Cristina
;
Napolitano, Carlo
;
Servettini, Ilenio
;
Moro, Francesca
;
Ruan, Yanfei
;
Guglielmi, Luca
;
Pieroni, Stefania
;
Servillo, Giuseppe
;
Lanciotti, Angela
;
Valvo, Giulia
;
Catacuzzeno, Luigi
;
Franciolini, Fabio
;
Molinari, Paola
;
Marchese, Maria
;
Grottesi, Alessandro
;
Guerrini, Renzo
;
Santorelli, Filippo Maria
;
Priori, Silvia Giuliana
;
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
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
2009
Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties
Imbrici, Paola
;
Grottesi, Alessandro
;
D'Adamo, Maria Cristina
;
Tucker, Stephen J.
;
Pessia, Mauro
2011
Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1
Sicca, Federico
;
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Moro, Francesca
;
Bonatti, Fabrizia
;
Brovedani, Paola
;
Grottesi, Alessandro
;
Guerrini, Renzo
;
Masi, Gabriele
;
Santorelli, Filippo Maria
;
Pessia, Mauro
2016
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
Sicca, Federico
;
Ambrosini, Elena
;
Marchese, Maria
;
Sforna, Luigi
;
Servettini, Ilenio
;
Valvo, Giulia
;
Brignone, Maria Stefania
;
Lanciotti, Angela
;
Moro, Francesca
;
Grottesi, Alessandro
;
Catacuzzeno, Luigi
;
Baldini, Sara
;
Hasan, Sonia M.
;
D'Adamo, Maria Cristina
;
Franciolini, Fabio
;
Molinari, Paola
;
Santorelli, Filippo Maria
;
Pessia, Mauro
2016
A Calsequestrin-1 mutation associated with a skeletal muscle disease alters sarcoplasmic Ca2+ release
D'Adamo, Maria Cristina
;
Sforna, Luigi
;
Visentin, Sergio
;
Grottesi, Alessandro
;
Servettini, Ilenio
;
Guglielmi, Luca
;
Macchioni, Lara
;
Saredi, Simona
;
Curcio, Maurizio
;
Nuccio, Chiara de
;
Hasan, Sonia M.
;
Corazzi, L.
;
Franciolini, Fabio
;
Mora, Marina
;
Catacuzzeno, Luigi
;
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
8
D'Adamo, Maria Cristina
4
Catacuzzeno, Luigi
4
Franciolini, Fabio
4
Imbrici, Paola
4
Servettini, Ilenio
3
Guglielmi, Luca
3
Hasan, Sonia M.
3
Moro, Francesca
3
Santorelli, Filippo Maria
.
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Subject
6
Potassium channels
3
Ataxia
1
Acetazolamide
1
Articulation disorders
1
Astrocytomas
1
Ataxia -- Genetic aspects
1
Autism
1
Autism -- Diagnosis
1
Autism in adolescence
.
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