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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Issue Date
Title
Author(s)
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
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
Discover
Author
3
D'Adamo, Maria Cristina
3
Pessia, Mauro
2
Imbrici, Paola
1
Arning, Larissa
1
Bernasconi, Pia
1
Biskup, Saskia
1
Catacuzzeno, Luigi
1
Cudia, Paola
1
Davies, Wayne L.
.
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Subject
1
Acetazolamide
1
Articulation disorders
1
Cerebral palsy
1
Confocal microscopy
1
Ion channels
1
Mental retardation
1
Potassium channels