Resultados da pesquisa - Angela Robbiano

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  1. 1
    A novel <i>KCNQ3</i> mutation in familial epilepsy with focal seizures and intellectual disability

    A novel <i>KCNQ3</i> mutation in familial epilepsy with focal seizures and intellectual disability Por Francesco Miceli, Pasquale Striano, Maria Virginia Soldovieri, Antonina Fontana, Rosaria Nardello, Angela Robbiano, Giulia Bellini, Maurizio Elia, Federico Zara, Maurizio Taglialatela, Salvatore Mangano

    Publicado em 2014
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  2. 2
    Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells

    Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells Por Franca Gerosa, Barbara Baldani‐Guerra, Lyudmila Lyakh, Giovanna Batoni, Semih Esin, Robin Winkler-Pickett, Maria Rita Consolaro, Mario Marchi, Daniela Giachino, Angela Robbiano, M. Astegiano, A. Sambataro, Robert A. Kastelein, Giuseppe Carra, Giorgio Trinchieri

    Publicado em 2008
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  3. 3
    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures Por Gemma L. Carvill, Jacinta M. McMahon, Amy L. Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Publicado em 2015
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  4. 4
    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance Por Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Di Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, R. Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, M Budetta, Maurizio Taglialatela, Domenico Coviello, Federico Vigevano, Carlo Minetti

    Publicado em 2013
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  5. 5
    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome Por Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović

    Publicado em 2013
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  6. 6
    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A Por Dalia Kasperavičiūtė, Claudia B. Catarino, Mar Matarín, Costin Leu, Jan Nový, Anna Tostevin, Bárbara Leal, Ellen V.S. Hessel, Kerstin Hallmann, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P. Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J. Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta Kälviäinen, Kai Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, U Gruber‐Sedlmayr, Kurt Schlachter, Eva M. Reinthaler, Elisabeth Stögmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J. O’Brien, K. Meng Tan, Slavé Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R. Sperling, Russell J. Buono, Hákon Hákonarson, João Chaves, Paulo Costa, Berta Martins da Silva, António Martins da Silva, P.N.E. de Graan, Bobby P.C. Koeleman, Albert J. Becker, Susanne Schoch, Marec von Lehe, Philipp S. Reif, Felix Rosenow, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M. Hamer, Katja Kobow, Roland Coras, Ingmar Blümcke, Ingrid E. Scheffer, Samuel F. Berkovic, Michael E. Weale, Norman Delanty, Chantal Depondt, Gianpiero L. Cavalleri, Wolfram S. Kunz, Sanjay M. Sisodiya

    Publicado em 2013
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  7. 7
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Por Michael Steffens, Costin Leu, Ann‐Kathrin Ruppert, Federico Zara, Pasquale Striano, Angela Robbiano, Giuseppe Capovilla, Paolo Tinuper, Antonio Gambardella, Amedeo Bianchi, Angela La Neve, Giovanni Crichiutti, Carolien G. F. de Kovel, Dorothee Kasteleijn‐Nolst Trenité, Gerrit‐Jan de Haan, Dick Lindhout, Verena Gaus, Bettina Schmitz, Diéter Janz, Yvonne G. Weber, Felicitas Becker, Holger Lerche, Bernhard J. Steinhoff, Ailing A. Kleefuß‐Lie, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Hiltrud Muhle, Sarah von Spiczak, P Ostertag, Ingo Helbig, Ulrich Stephani, Rikke S. Møller, Helle Hjalgrim, Leanne M. Dibbens, Susannah T. Bellows, Karen Oliver, Saul A. Mullen, Ingrid E. Scheffer, Samuel F. Berkovic, Kate V. Everett, M. R. Gardiner, Carla Marini, Renzo Guerrini, Anna‐Elina Lehesjoki, Auli Sirén, Michel Guipponi, Alain Malafosse, Pierre Thomas, Rima Nabbout, Stéphanie Baulac, Eric LeGuern, Rosa Guerrero, José M. Serratosa, Philipp S. Reif, Felix Rosenow, Martina Mörzinger, Martha Feucht, Fritz Zimprich, Claudia Kapser, Christoph J. Schankin, Arvid Suls, Kaat Smets, Peter De Jonghe, Albena Jordanova, Hande Çağlayan, Zühal Yapıcı, Demet Yalcin, Betül Baykan, Nerses Bebek, Uğur Özbek, Christian Gieger, H.‐Erich Wichmann, Tobias Balschun, David Ellinghaus, André Franke, Christian Meesters, Tim Becker, T. F. Wienker, Anne Hempelmann, Herbert Schulz, Franz Rüschendorf, Markus Leber, S. M. Pauck, Holger Trucks, Mohammad-Reza Toliat, Peter Nürnberg, G. Avanzini, Bobby P.C. Koeleman, T. Sander

    Publicado em 2012
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