نتائج البحث - Francesca Darra

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  1. 1
    A study of 63 cases with eyelid myoclonia with or without absences: Type of seizure or an epileptic syndrome?

    A study of 63 cases with eyelid myoclonia with or without absences: Type of seizure or an epileptic syndrome? حسب Roberto Caraballo, Elena Fontana, Francesca Darra, Santiago Chacón, N. P. Ross, Elena Fiorini, Natalio Fejerman, Bernardo Dalla Bernardina

    منشور في 2009
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    Artigo
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  2. 2
    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy حسب Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi‐Vici, Liesbeth Keldermans, Sandrine Vuillaumier‐Barrot, Dirk J. Lefeber, Renzo Guerrini

    منشور في 2016
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  3. 3
    Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

    Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults حسب Francesca Darra, Domenica Battaglia, Charlotte Dravet, Mara Patrini, Francesca Offredi, Daniela Chieffo, Elena Piazza, Elena Fontana, Giorgia Olivieri, Ida Turrini, Bernardo Dalla Bernardina, Tiziana Granata, Francesca Ragona

    منشور في 2019
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  4. 4
    An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a <scp>real‐world</scp> practice setting: A report from the Fenfluramine European Early Access Program

    An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a <scp>real‐world</scp> practice setting: A report from the F... حسب Renzo Guerrini, Nicola Specchio, Ángel Aledo‐Serrano, Milka Pringsheim, Francesca Darra, Patrick May, António Gil‐Nagel, Tilman Polster, Sameer M. Zuberi, Amélie Lothe, Arnold R. Gammaitoni, Adam Strzelczyk

    منشور في 2022
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  5. 5
    Neuroimaging Changes in Menkes Disease, Part 1

    Neuroimaging Changes in Menkes Disease, Part 1 حسب Renzo Manara, L. D'agata, Maria Chiara Rocco, Raffaella Cusmai, Elena Freri, Lorenzo Pinelli, Francesca Darra, Elena Procopio, Rodica Mardari, Caterina Zanus, Gabriella Di Rosa, Consolata Soddu, Mariasavina Severino, Mario Ermani, Daniela Longo, Stefano Sartori

    منشور في 2017
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    Revisão
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  6. 6
    Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

    Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study حسب Nicola Specchio, Nicola Pietrafusa, Viola Doccini, Marina Trivisano, Francesca Darra, Francesca Ragona, Alberto Cossu, Silvia Spolverato, Domenica Battaglia, Michela Quintiliani, Maria Luigia Gambardella, Anna Rosati, Davide Mei, Tiziana Granata, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini

    منشور في 2020
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  7. 7
    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome حسب Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Hanène Benrhouma, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, N. Gouider‐Khouja, Enza Maria Valente

    منشور في 2014
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  8. 8
    Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

    Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients حسب Francesca Ragona, Tiziana Granata, Bernardo Dalla Bernardina, Francesca Offredi, Francesca Darra, Domenica Battaglia, Monica Morbi, Daniela Brazzo, Simona Cappelletti, Daniela Chieffo, I. Giorgi, Elena Fontana, Elena Freri, Carla Marini, Alessio Toraldo, Nicola Specchio, Pierangelo Veggiotti, Federico Vigevano, Renzo Guerrini, Andrea Guzzetta, Charlotte Dravet

    منشور في 2011
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  9. 9
    Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

    Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Re... حسب Robertino Dilena, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Antonella Giacobbe, Paolo Ambrosino, Ilaria Mosca, María Albina Galli, Sophie Guez, Monica Fumagalli, Francesco Miceli, Dario Cattaneo, Francesca Darra, Elena Di Gennaro, Federico Zara, Pasquale Striano, Barbara Castellotti, Cinzia Gellera, Costanza Varesio, Pierangelo Veggiotti, Maurizio Taglialatela

    منشور في 2018
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  10. 10
    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy

    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy حسب Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Antonio Terracciano, Lucio Parmeggiani, Anna Rita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrini

    منشور في 2012
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  11. 11
    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations حسب Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Francesca Madia, Elena Di Gennaro, Roberta Paravidino, Francesca Beccaria, Giuseppe Capovilla, Bernardo Dalla Bernardina, Francesca Darra, Maurizio Elia, Lucio Giordano, Giuseppe Gobbi, Tiziana Granata, Francesca Ragona, Renzo Guerrini, Carla Marini, Davide Mei, Francesca Longaretti, Antonino Romeo, Laura Siri, Nicola Specchio, Federico Vigevano, Salvatore Striano, Fabio Tortora, Andrea Rossi, Carlo Minetti, Charlotte Dravet, R. Gaggero, Federico Zara

    منشور في 2007
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  12. 12
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy حسب Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    منشور في 2018
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  13. 13
    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 حسب 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

    منشور في 2013
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  14. 14
    A registry for Dravet syndrome: The Italian experience

    A registry for Dravet syndrome: The Italian experience حسب Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Serena De Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini

    منشور في 2023
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  15. 15
    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly حسب Karine Poirier, Nicolas Lebrun, Loïc Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stéphanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Francesca Darra, Claude Cancès, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie Nguyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschké, Thierry Hieu, Cécile Masson, Diana Zélénika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly

    منشور في 2013
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  16. 16
    Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

    Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study حسب Marina Trivisano, Nicola Pietrafusa, Antonio Terracciano, Carla Marini, Davide Mei, Francesca Darra, Patrizia Accorsi, Domenica Battaglia, Lorella Caffi, Maria Paola Canevini, Simona Cappelletti, Elisabetta Cesaroni, Luca De Palma, Paola Costa, Raffaella Cusmai, Lucio Giordano, Anna Rita Ferrari, Elena Freri, Lucia Fusco, Tiziana Granata, Tommaso Martino, Massimo Mastrangelo, Stefania Maria Bova, Lucio Parmeggiani, Francesca Ragona, Federico Sicca, Pasquale Striano, Luigi Maria Specchio, Ilaria Tondo, Elena Zambrelli, Nelia Zamponi, Caterina Zanus, Clementina Boniver, Marilena Vecchi, Carlo Avolio, Bernardo Dalla Bernardina, Enrico Bertini, Renzo Guerrini, Federico Vigevano, Nicola Specchio

    منشور في 2018
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  17. 17
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome حسب María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    منشور في 2011
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  18. 18
    Clinical spectrum of <i>STX1B</i> -related epileptic disorders

    Clinical spectrum of <i>STX1B</i> -related epileptic disorders حسب Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cécilia Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess‐Walsh, Bryce A. Mendelsohn, Adam L. Numis, Maria Roberta Cilio, Wim Van Paesschen, Lene Lavard Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sáenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaëtan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert

    منشور في 2019
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  19. 19
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications حسب Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    منشور في 2021
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