检索结果 - Raffaella Rusconi

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  1. 1
    Nonfunctional Na <sub>V</sub> 1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

    Nonfunctional Na <sub>V</sub> 1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects 由 Sandrine Cestèle, Emanuele Schiavon, Raffaella Rusconi, Silvana Franceschetti, Massimo Mantegazza

    出版 2013
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  2. 2
    Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Na<sub>v</sub>1.1 (SCN1A) Na<sup>+</sup>Channel

    Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Na<sub>v</sub>1.1 (SCN1A) Na<sup>+</sup>Channel 由 Sandrine Cestèle, Paolo Scalmani, Raffaella Rusconi, Benedetta Terragni, Silvana Franceschetti, Massimo Mantegazza

    出版 2008
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  3. 3
    Pure haploinsufficiency for Dravet syndrome Na<sub>V</sub>1.1 (<i>SCN1A</i>) sodium channel truncating mutations

    Pure haploinsufficiency for Dravet syndrome Na<sub>V</sub>1.1 (<i>SCN1A</i>) sodium channel truncating mutations 由 Giulia Bechi, Paolo Scalmani, Emanuele Schiavon, Raffaella Rusconi, Silvana Franceschetti, Massimo Mantegazza

    出版 2011
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  4. 4
    Effects in Neocortical Neurons of Mutations of the Na<sub>v</sub>1.2 Na<sup>+</sup>Channel causing Benign Familial Neonatal-Infantile Seizures

    Effects in Neocortical Neurons of Mutations of the Na<sub>v</sub>1.2 Na<sup>+</sup>Channel causing Benign Familial Neonatal-Infantile Seizures 由 Paolo Scalmani, Raffaella Rusconi, Elena Armatura, Federico Zara, G. Avanzini, Silvana Franceschetti, Massimo Mantegazza

    出版 2006
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  5. 5
    A rescuable folding defective Na<sub>v</sub>1.1 (<i>SCN1A</i>) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies?

    A rescuable folding defective Na<sub>v</sub>1.1 (<i>SCN1A</i>) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies? 由 Raffaella Rusconi, Romina Combi, Sandrine Cestèle, Daniele Grioni, Silvana Franceschetti, Leda DalprÃ, Massimo Mantegazza

    出版 2009
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  6. 6
    Neuron-to-neuron α-synuclein propagation in vivo is independent of neuronal injury

    Neuron-to-neuron α-synuclein propagation in vivo is independent of neuronal injury 由 Ayşe Ulusoy, Ruth E. Musgrove, Raffaella Rusconi, Michael Klinkenberg, Michael Helwig, Anja Schneider, Donato A. Di Monte

    出版 2015
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  7. 7
    Divergent effects of the <scp>T</scp>1174S <scp><i>SCN1A</i></scp> mutation associated with seizures and hemiplegic migraine

    Divergent effects of the <scp>T</scp>1174S <scp><i>SCN1A</i></scp> mutation associated with seizures and hemiplegic migraine 由 Sandrine Cestèle, Angelo Labate, Raffaella Rusconi, Patrizia Tarantino, Laura Mumoli, Silvana Franceschetti, Grazia Annesi, Massimo Mantegazza, Antonio Gambardella

    出版 2013
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    Revisão
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  8. 8
    Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Na<sub>v</sub>1.1 Na<sup>+</sup>Channel Mutant

    Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Na<sub>v</sub>1.1 Na<sup>+</sup>Channel Mutant 由 Raffaella Rusconi, Paolo Scalmani, Rita Restano‐Cassulini, Giulia Giunti, Antonio Gambardella, Silvana Franceschetti, Grazia Annesi, Enzo Wanke, Massimo Mantegazza

    出版 2007
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  9. 9
    Regulation of Persistent Na Current by Interactions between β Subunits of Voltage-Gated Na Channels

    Regulation of Persistent Na Current by Interactions between β Subunits of Voltage-Gated Na Channels 由 Teresa K. Aman, Tina M. Grieco‐Calub, Chunling Chen, Raffaella Rusconi, Emily A. Slat, Lori L. Isom, Indira M. Raman

    出版 2009
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  10. 10
    Caudo‐rostral brain spreading of α‐synuclein through vagal connections

    Caudo‐rostral brain spreading of α‐synuclein through vagal connections 由 Ayşe Ulusoy, Raffaella Rusconi, Blanca Isabel Pérez‐Revuelta, Ruth E. Musgrove, Michael Helwig, Bettina Winzen‐Reichert, Donato A. Di Monte

    出版 2013
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  11. 11
    The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice

    The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice 由 Anna Migdalska‐Richards, Michał Węgrzynowicz, Raffaella Rusconi, Giulio Deangeli, Donato A. Di Monte, Maria Grazia Spillantini, Anthony H.V. Schapira

    出版 2017
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  12. 12
    Brain propagation of transduced α-synuclein involves non-fibrillar protein species and is enhanced in α-synuclein null mice

    Brain propagation of transduced α-synuclein involves non-fibrillar protein species and is enhanced in α-synuclein null mice 由 Michael Helwig, Michael Klinkenberg, Raffaella Rusconi, Ruth E. Musgrove, Nour K. Majbour, Omar M. A. El‐Agnaf, Ayşe Ulusoy, Donato A. Di Monte

    出版 2015
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  13. 13
    A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

    A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation 由 Bin Tang, Karoni Dutt, Ligia A. Papale, Raffaella Rusconi, Anupama Shankar, Jessica Ezzell Hunter, Sérgio Tufik, Frank H. Yu, William A. Catterall, Massimo Mantegazza, Alan L. Goldin, Andrew Escayg

    出版 2009
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  14. 14
    Identification of an Na <sub>v</sub> 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

    Identification of an Na <sub>v</sub> 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures 由 Massimo Mantegazza, Antonio Gambardella, Raffaella Rusconi, Emanuele Schiavon, Ferdinanda Annesi, Rita Restano‐Cassulini, Angelo Labate, Sara Carrideo, R. Chifari, Maria Paola Canevini, R. Canger, Silvana Franceschetti, Grazia Annesi, Enzo Wanke, Aldo Quattrone

    出版 2005
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  15. 15
    Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism

    Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism 由 Yu Liu, Luis F. Lopez‐Santiago, Yukun Yuan, Julie Miller Jones, Baiyu Zhang, Heather A. O’Malley, Gustavo A. Patiño, Janelle E. O’Brien, Raffaella Rusconi, Ajay Gupta, Robert C. Thompson, Marvin R. Natowicz, Miriam H. Meisler, Lori L. Isom, Jack M. Parent

    出版 2013
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  16. 16
    Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

    Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study 由 Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance‐Touchette, Caroline Meloche, Micheline Gravel, Cristina Elena Niturad, Julia Knaus, Carolien G. F. de Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann‐Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D. Coombs, Christopher A. Reid, Pasquale Striano, Hande Çağlayan, Auli Sirén, Kate V. Everett, Rikke S. Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S. Kunz, Yvonne G. Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M. Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria Stella Vari, Dorothee Kasteleijn‐Nolst Trenité, Betül Baykan, Uğur Özbek, Nerses Bebek, Karl Martin Klein, Felix Rosenow, Dang Khoa Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta‐Walti, Graeme J. Sills, Pauls Auce, Ben Francis, Michael R. Johnson, Anthony G Marson, Bianca Berghuis, Josemir W. Sander, Andreja Avberšek, Mark McCormack, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M. Arfan Ikram, André G. Uitterlinden, G. Avanzini, Stéphanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, José M. Serratosa, Bobby P.C. Koeleman, Aarno Palotie, Anna‐Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Patrick May, Simon Girard

    出版 2018
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