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Novel mutations of Kir2.1 underlying Andersen’s syndrome are non-functional and have a dominant negative effect on the wild –type allele 1-gen-2002 Imbrici, Paola; L., Bilsland; N. P., Davies; M. G. HANNA AND D. M., Kullmann
Functional Characterization of an Episodic Ataxia Type-1 Mutation Occurring in the S1 Segment of hKv1.1 Channels. 1-gen-2003 Imbrici, Paola; Cusimano, A.; D'Adamo, M. C.; DE CUURTIS, A.; Pessia, M.
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia 1-gen-2004 Imbrici, Paola; S. L., Jaffe; L. H., Eunson; N. P., Davies; C., Herd; R., Robertson; D. M., Kullmann; AND M. G., Hanna
Late onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. 1-gen-2005 Graves, T; Imbrici, Paola; Eunson, L; Bhatia, Kp; Wodia, Nh; Hanna, Mg; Kullmann, Dm
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia—authors’ response 1-gen-2005 Hanna, Mg; Graves, Td; Stephen, Jaffe; Imbrici, Paola; Kullmann DM on behalf of the, Authors
The Episodic Ataxia Type 1 Mutation F184C Alters the Zn2+ Modulation of the Human Kv1.4-Kv1.1/Kvb1 Channel 1-gen-2005 Imbrici, Paola; M. C., Dadamo; B., Picconi; I. SERVETTINI AND M., Pessia
EA-1 mutations alter the fast inactivation properties of Kv1.1 channels conferred by Kv1.4 and Kvbeta1.1 subunits 1-gen-2005 Pessia, M.; Imbrici, Paola; D’Adamo, M.
Effects of Episodic Ataxia-Associated Mutations on hKv1.4 1.1/Kvbeta1 channels 1-gen-2005 M. C., Dadamo; Imbrici, Paola; B., Picconi; I. SERVETTINI AND M., Pessia
Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation 1-gen-2005 Davies, N. P.; Imbrici, Paola; Fialho, D.; Herd, C.; Bilsland, L. G.; Weber, A.; Mueller, R.; Hilton Jones, D.; Ealing, J.; Boothman, B. R.; Giunti, P.; Parsons, L. M.; Thomas, M.; Manzur, A. Y.; Jurkat Rott, K.; Lehmann Horn, F.; Chinnery, P. F.; Rose, M.; Kullmann, D. M.; Hanna, M. G.
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A 1-gen-2005 Imbrici, Paola; L. H., Eunson; T. D., Graves; K. P., Bhatia; N. H., Wadia; D. M., Kullmann; AND M. G., Hanna
Episodic Ataxia Type 1 Mutations in the KCNA1 Gene Impair the Fast Inactivation Properties of the Human K+ Channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2 1-gen-2006 Imbrici, Paola; D'Adamo, Mc; Kullmann, Dm; Pessia, M.
The Episodic Ataxia Type 1 Mutation F184C Alters the Zn2+ Modulation of the Human Kv1.4-Kv1.1/Kvbeta1 Channel 1-gen-2006 Imbrici, Paola; Dadamo, Mc; M., Pessia
Identification and functional characterization of a novel mutation in the KCNA1 gene of a Sicilian family affected by episodic ataxia type 1 1-gen-2007 Imbrici, Paola; Gualandi, F; Dadamo, M. C.; TADDEI MASIERI, M; Cudia, P; DE GRANDIS, D; Ferlini, A; M., Pessia
Episodic ataxia type 1 mutations cause loss-of-function impairments of heteromeric channels formed by the Kv1.4 and Kv1.1 subunits 1-gen-2007 Imbrici, Paola; Mc, D’Adamo; I., Servettini; M., Pessia
Role of inwardly-rectifying potassium channels Kir5.1 in learning and memory processes in a mouse knock-out model 1-gen-2007 Dadamo, Mc; Ambrosini, Mv; Mariucci, G; Taha, E; Imbrici, Paola; Servettini, I; Tucker, S; M., Pessia
Episodic Ataxia Type 1 Mutation F184C Alters Zn2+-Induced Modulation of the Human K+ Channel Kv1.4-Kv1.1/Kvb1.1 1-gen-2007 Imbrici, Paola; D'Adamo, Mc; Cusimano, A; Pessia, M.
Voltage-gated calcium channels modulate synaptic transmission at vestibular neurons 1-gen-2007 I., Servettini; Imbrici, Paola; M., D'Adamo; Ve, Pettorossi; M., Pessia
Functional determinants of episodic ataxia/myokymia syndrome. 1-gen-2007 M., Pessia; Imbrici, Paola; M. C., D’Adamo; A., Ferlini
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2 1-gen-2008 Graves, T. D.; Imbrici, Paola; Kors, E. E.; Terwindt, G. M.; Eunson, L. H.; Frants, R. R.; Haan, J.; Ferrari, M. D.; Goadsby, P. J.; Hanna, M. G.; van den Maagdenberg, A. M. J. M.; Kullmann, D. M.
A Novel KCNA1 Mutation Identified in an Italian Family Affected by Episodic Ataxia Type 1. 1-gen-2008 Imbrici, Paola; Gualandi, F; D'Adamo, Mc; TADDEI MASIERI, M; Cudia, P; DE GRANDIS, D; Mannucci, R; Nicoletti, I; Tucker, Sj; Ferlini, A; Pessia, M.
Mostrati risultati da 21 a 40 di 125
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