Search Results - Lucio Giordano

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  1. 1
    Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient

    Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient by Serena Micheletti, Filippo Palestra, P. Martelli, Patrizia Accorsi, Jessica Galli, Lucio Giordano, Vittoria Trebeschi, Elisa Fazzi

    Published 2016
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  2. 2
    Risk Factors Related to Urinary Tract Infection in Renal Transplant Recipients

    Risk Factors Related to Urinary Tract Infection in Renal Transplant Recipients by Lucio Giordano, Marcus Faria Lasmar, Heloísa Reniers Vianna, Leonardo Faria Lasmar, Robert Palma, J. Domiciano, Euler Pace Lasmar

    Published 2012
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  3. 3
    Long-Term Impact of Hepatitis C Virus Infection in Post-Renal Transplantation

    Long-Term Impact of Hepatitis C Virus Infection in Post-Renal Transplantation by Lucio Giordano, Marcus Faria Lasmar, Leonardo Faria Lasmar, Adalberto Fernandes Nogueira, Maravillas Santos, Heloísa Reniers Vianna, Euler Pace Lasmar

    Published 2012
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  4. 4
    Sporadic and familial glut1ds Italian patients: A wide clinical variability

    Sporadic and familial glut1ds Italian patients: A wide clinical variability by Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi, Nardo Nardocci, Pierangelo Veggiotti

    Published 2014
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  5. 5
    Epilepsy in Rett syndrome: Clinical and genetic features

    Epilepsy in Rett syndrome: Clinical and genetic features by Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Joussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, Maria Paola Canevini, Edvige Veneselli

    Published 2010
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  6. 6
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients by Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria Teresa Divizia, Maria Luisa Giovannucci Uzielli, Giovanni Neri, Maria Francesca Bedeschi, Francesca Faravelli, Angelo Selicorni, Lidia Larizza

    Published 2006
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  7. 7
    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations by Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, S. Giovannini, Francesca Notturno, Fausta Ciccocioppo, L. Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leonilda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco

    Published 2014
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  8. 8
    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome by Jet Bliek, Gaetano Verde, Jonathan L A Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah Mackay, Andrea Riccio

    Published 2008
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  9. 9
    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations by Cigoli, Maria Sole, Avemaria, Francesca, De Benedetti, Stefano, Gesu, Giovanni P., Accorsi, Lucio Giordano, Parmigiani, Stefano, Corona, Maria Franca, Capra, Valeria, Mosca, Andrea, Giovannini, Simona, Notturno, Francesca, Ciccocioppo, Fausta, Volpi, Lilia, Estienne, Margherita, De Michele, Giuseppe, Antenora, Antonella, Bilo, Leda, Tavoni, Antonietta, Zamponi, Nelia, Alfei, Enrico, Baranello, Giovanni, Riva, Daria, Penco, Silvana

    Published 2014
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  10. 10
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI by Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    Published 2012
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  11. 11
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Published 2013
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  12. 12
    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis by Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M. Dibbens, Jacinta M. McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio, Lucio Giordano, Pasquale Striano, Elena Di Gennaro, J. Helen Cross, Sara Kivity, Miriam Y. Neufeld, Zaid Afawi, Eva Andermann, Daniel Keene, Olivier Dulac, Federico Zara, Samuel F. Berkovic, Renzo Guerrini, John C. Mulley

    Published 2009
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  13. 13
    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 by 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

    Published 2007
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  14. 14
    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 by 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

    Published 2013
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  15. 15
    Extending the <i>KCNQ2</i> encephalopathy spectrum

    Extending the <i>KCNQ2</i> encephalopathy spectrum by Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S. Møller, Sabine Grønborg, An‐Sofie Schoonjans, Berten Ceulemans, Sinéad B. Heavin, Christin Eltze, Rita Horváth, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostásy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, Steffan Syrbe, Beth Rosen Sheidley, Renzo Guerrini, Annapurna Poduri, Johannes R. Lemke, Simone Mandelstam, Ingrid E. Scheffer, Marco Angriman, Pasquale Striano, Carla Marini, Arvid Suls, Peter De Jonghe

    Published 2013
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  16. 16
    A registry for Dravet syndrome: The Italian experience

    A registry for Dravet syndrome: The Italian experience by 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

    Published 2023
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  17. 17
    <i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABC

    <i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABC by Eline M. Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M. Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L. van der Meij, Barbara Plecko, Susan Blasér, Nicole I. Wolf, Quinten Waisfisz, Truus E. M. Abbink, Marjo S. van der Knaap, Adele D’Amico, Ana Raguž, Paola la Boria, Graziella Cefalo, Argirios Dinopoulos, Sira Domènech, Maria Alice Donati, Daniele Frattini, Serena Gasperini, Lucio Giordano, Elena Procopio, Anita Rauch, Agustí Rodríguez‐Palmero, Komudi Siriwardena, Miguel Tomás‐Vila

    Published 2017
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  18. 18
    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 by 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

    Published 2018
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  19. 19
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy by Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Published 2019
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  20. 20
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy by Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen

    Published 2016
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