Хайлтын үр дүнгүүд - Carla Marini

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  1. 1
    Clinical spectrum of <i>SCN1A</i> mutations

    Clinical spectrum of <i>SCN1A</i> mutations -н Antonio Gambardella, Carla Marini

    Хэвлэсэн 2009
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    Revisão
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  2. 2
    Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

    Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models -н Renzo Guerrini, Carla Marini, Massimo Mantegazza

    Хэвлэсэн 2014
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  3. 3
    Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

    Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies -н Davide Mei, Valentina Cetica, Carla Marini, Renzo Guerrini

    Хэвлэсэн 2019
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  4. 4
    Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics

    Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics -н Carla Marini, Michelle A. King, John S. Archer, M. R. Newton, Samuel F. Berkovic

    Хэвлэсэн 2003
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    Artigo
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  5. 5
    Novel brain expression of ClC-1 chloride channels and enrichment of <i>CLCN1</i> variants in epilepsy

    Novel brain expression of ClC-1 chloride channels and enrichment of <i>CLCN1</i> variants in epilepsy -н Tim T. Chen, Tara Klassen, Alica M. Goldman, Carla Marini, Renzo Guerrini, Jeffrey L. Noebels

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    Intracortical Hyperexcitability in Humans with a GABAA Receptor Mutation

    Intracortical Hyperexcitability in Humans with a GABAA Receptor Mutation -н Marco Fedi, Samuel F. Berkovic, R. Macdonell, J. M. Curatolo, Carla Marini, David C. Reutens

    Хэвлэсэн 2007
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    Artigo
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  7. 7
    Variable epilepsy phenotypes associated with a familial intragenic deletion of the <i>SCN1A</i> gene

    Variable epilepsy phenotypes associated with a familial intragenic deletion of the <i>SCN1A</i> gene -н Renzo Guerrini, Elena Cellini, Davide Mei, Tiziana Metitieri, Cristina Petrelli, Daniela Pucatti, Carla Marini, Nelia Zamponi

    Хэвлэсэн 2010
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    Artigo
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  8. 8
    Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

    Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation -н Carla Marini, Louise A. Harkin, Robyn H. Wallace, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic

    Хэвлэсэн 2002
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    Artigo
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  9. 9
    A de novo mutation in sporadic nocturnal frontal lobe epilepsy

    A de novo mutation in sporadic nocturnal frontal lobe epilepsy -н Hilary A. Phillips, Carla Marini, Ingrid E. Scheffer, G.R. Sutherland, John C. Mulley, Samuel F. Berkovic

    Хэвлэсэн 2000
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  10. 10
    <i>PRRT2</i> mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

    <i>PRRT2</i> mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine -н Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, G. Bruccini, Gaetano Tortorella, Renzo Guerrini

    Хэвлэсэн 2012
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    Artigo
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  11. 11
    <i>SCN1A</i> testing for epilepsy: Application in clinical practice

    <i>SCN1A</i> testing for epilepsy: Application in clinical practice -н Shinichi Hirose, Ingrid E. Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M. Goldman, Marcelo Kauffman, Nigel CK Tan, Daniel H. Lowenstein, Sanjay M. Sisodiya, Ruth Ottman, Samuel F. Berkovic

    Хэвлэсэн 2013
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    Artigo
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  12. 12
    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy

    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy -н Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin, Sarah Weckhuysen, Marco Angriman, Arvid Suls, Barbara Podestà, Ronald L. Thibert, Kevin A. Shapiro, Renzo Guerrini, Ingrid E. Scheffer, Carla Marini, Maria Roberta Cilio

    Хэвлэсэн 2015
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    Artigo
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  13. 13
    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy -н Saul A. Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John A. Damiano, Kate Lawrence, Peter De Jonghe, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini

    Хэвлэсэн 2011
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    Artigo
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  14. 14
    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations

    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations -н Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini

    Хэвлэсэн 2017
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    Artigo
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  15. 15
    Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

    Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear -н Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, F Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari

    Хэвлэсэн 2006
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  16. 16
    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures -н Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg‐Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

    Хэвлэсэн 2012
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  17. 17
    Altered kinetics and benzodiazepine sensitivity of a GABA <sub>A</sub> receptor subunit mutation [γ <sub>2</sub> (R43Q)] found in human epilepsy

    Altered kinetics and benzodiazepine sensitivity of a GABA <sub>A</sub> receptor subunit mutation [γ <sub>2</sub> (R43Q)] found in human epilepsy -н David N. Bowser, David A. Wagner, Cynthia Czajkowski, Brett A. Cromer, Michael W. Parker, Robyn H. Wallace, Louise A. Harkin, John C. Mulley, Carla Marini, Samuel F. Berkovic, David A. Williams, Mathew V. Jones, Steven Petrou

    Хэвлэсэн 2002
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  18. 18
    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients -н Richard J. Leventer, Anna Jansen, Daniela T. Pilz, Neil Stoodley, Carla Marini, François Dubeau, J. Y. Malone, Lex A. Mitchell, Simone Mandelstam, Ingrid E. Scheffer, Samuel F. Berkovic, Frédérick Andermann, Eva Andermann, Renzo Guerrini, William B. Dobyns

    Хэвлэсэн 2010
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  19. 19
    Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities

    Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities -н Carla Marini, Davide Mei, Teresa Temudo, Anna Rita Ferrari, Daniela Buti, Charlotte Dravet, Ana Isabel Dias, Ana Moreira, Eulália Calado, Stefano Seri, Brian G.R. Neville, Juan Narbona, Evan Reid, Roberto Michelucci, Federico Sicca, J. Helen Cross, Renzo Guerrini

    Хэвлэсэн 2007
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    Artigo
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  20. 20
    Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations

    Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations -н Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Anna Rita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, G. Avanzini, Renzo Guerrini

    Хэвлэсэн 2017
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