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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Issue Date
Title
Author(s)
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
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
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
Discover
Author
3
D'Adamo, Maria Cristina
3
Ferlini, Alessandra
3
Pessia, Mauro
2
Cudia, Paola
2
De Grandis, Domenico
1
Altamura, Concetta
1
Conte, Diana
1
De Maria, Giovanni
1
Desaphy, Jean-Francois
.
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Subject
3
Ataxia
1
Confocal microscopy
1
Ion channels
1
Metabolism -- Disorders
1
Myokymia
1
Potassium channels