Resultados de procura - Silvana Franceschetti
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Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Na<sub>v</sub>1.1 (SCN1A) Na<sup>+</sup>Channel por Sandrine Cestèle, Paolo Scalmani, Raffaella Rusconi, Benedetta Terragni, Silvana Franceschetti, Massimo Mantegazza
Publicado 2008Artigo -
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Effects in Neocortical Neurons of Mutations of the Na<sub>v</sub>1.2 Na<sup>+</sup>Channel causing Benign Familial Neonatal-Infantile Seizures por Paolo Scalmani, Raffaella Rusconi, Elena Armatura, Federico Zara, G. Avanzini, Silvana Franceschetti, Massimo Mantegazza
Publicado 2006Artigo -
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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? por Raffaella Rusconi, Romina Combi, Sandrine Cestèle, Daniele Grioni, Silvana Franceschetti, Leda DalprÃ, Massimo Mantegazza
Publicado 2009Artigo -
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Divergent effects of the <scp>T</scp>1174S <scp><i>SCN1A</i></scp> mutation associated with seizures and hemiplegic migraine por Sandrine Cestèle, Angelo Labate, Raffaella Rusconi, Patrizia Tarantino, Laura Mumoli, Silvana Franceschetti, Grazia Annesi, Massimo Mantegazza, Antonio Gambardella
Publicado 2013Revisão -
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Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Na<sub>v</sub>1.1 Na<sup>+</sup>Channel Mutant por Raffaella Rusconi, Paolo Scalmani, Rita Restano‐Cassulini, Giulia Giunti, Antonio Gambardella, Silvana Franceschetti, Grazia Annesi, Enzo Wanke, Massimo Mantegazza
Publicado 2007Artigo -
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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation por Laura Canafoglia, Michela Morbin, V. Scaioli, Davide Pareyson, Ludovico D’Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti
Publicado 2014Artigo -
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Activity-dependent phosphorylation of Ser187 is required for SNAP-25-negative modulation of neuronal voltage-gated calcium channels por Davide Pozzi, Steven B. Condliffe, Yuri Bozzi, Maia Chikhladze, Carlotta Grumelli, Véronique Proux‐Gillardeaux, Masami Takahashi, Silvana Franceschetti, Claudia Verderio, Michela Matteoli
Publicado 2007Artigo -
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Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by<i>SCARB2</i>mutations por Guido Rubboli, Silvana Franceschetti, Samuel F. Berkovic, Laura Canafoglia, Antonio Gambardella, Leanne M. Dibbens, P. Riguzzi, C. Campieri, Adriana Magaudda, C. A. Tassinari, Roberto Michelucci
Publicado 2011Artigo -
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Recessive Loss-of-Function Mutation in the Pacemaker HCN2 Channel Causing Increased Neuronal Excitability in a Patient with Idiopathic Generalized Epilepsy por Jacopo C. DiFrancesco, Andrea Barbuti, Raffaella Milanesi, Stefania Coco, Annalisa Bucchi, Georgia Bottelli, Carlo Ferrarese, Silvana Franceschetti, Benedetta Terragni, Mirko Baruscotti, Dario DiFrancesco
Publicado 2011Artigo -
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Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug‐resistance, assessment of risk factors, and usefulness of “new” antiepileptic drugs por Isabella Gilioli, Aglaia Vignoli, Elisa Visani, Marina Casazza, Laura Canafoglia, Valentina Chiesa, Elena Gardella, Francesca La Briola, Ferruccio Panzica, G. Avanzini, Maria Paola Canevini, Silvana Franceschetti, S. Binelli
Publicado 2012Artigo -
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Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations por Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, S. Binelli, V. Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti
Publicado 2015Artigo -
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hERG1 channels are overexpressed in glioblastoma multiforme and modulate VEGF secretion in glioblastoma cell lines por Alessio Masi, Andrea Becchetti, Rita Restano‐Cassulini, S. Polvani, Giovanna Hofmann, Anna Maria Buccoliero, Milena Paglierani, Bianca Pollo, Gian Luigi Taddei, Pasquale Gallina, Nicola Di Lorenzo, Silvana Franceschetti, Enzo Wanke, Annarosa Arcangeli
Publicado 2005Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Genetics
Neuroscience
Gene
Medicine
Epilepsy
Mutation
Internal medicine
Phenotype
Psychology
Chemistry
Disease
Myoclonus
Organic chemistry
Pathology
Mutant
Neuronal ceroid lipofuscinosis
Progressive myoclonus epilepsy
Electroencephalography
Loss function
Psychiatry
Sodium
Age of onset
Cell biology
Receptor
Sodium channel
Audiology
Aura
Biochemistry
Biophysics