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Showing results 17 to 22 of 22 < previous

Issue Date	Title	Author(s)
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
2015	New insights into the pathogenesis and therapeutics of episodic ataxia type 1	D'Adamo, Maria Cristina; Hasan, Sonia M.; Guglielmi, Luca; Servettini, Ilenio; Cenciarini, Marta; Catacuzzeno, Luigi; Franciolini, Fabio
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
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
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
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.

Showing results 17 to 22 of 22 < previous