Search Results - Patrizia Accorsi

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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
    <i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

    <i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders by Francesco Brancati, Lorena Travaglini, Dominika Zablocka, Eugen Boltshauser, Patrizia Accorsi, Giorgia Montagna, JL Silhavy, Giuseppe Barrano, Enrico Bertini, Francesco Emma, Luciana Rigoli, Bruno Dallapiccola, JG Gleeson, Enza Maria Valente

    Published 2008
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  3. 3
    NOTCH1 Is Aberrantly Activated in Chronic Lymphocytic Leukemia Hematopoietic Stem Cells

    NOTCH1 Is Aberrantly Activated in Chronic Lymphocytic Leukemia Hematopoietic Stem Cells by Mauro Di Ianni, Stefano Baldoni, Beatrice Del Papa, Patrizia Aureli, Erica Dorillo, Filomena De Falco, Elisabetta Albi, Emanuela Varasano, Ambra Di Tommaso, Raffaella Giancola, Patrizia Accorsi, Gianluca Rotta, Chiara Rompietti, Estevão Carlos Silva Barcelos, Antonio Francesco Campese, Paolo Di Bartolomeo, Isabella Screpanti, Emanuela Rosati, Franca Falzetti, Paolo Sportoletti

    Published 2018
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  4. 4
    Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support

    Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support by Serena Grumi, Livio Provenzi, Patrizia Accorsi, Giacomo Biasucci, Anna Cavallini, Lidia Decembrino, Rossana Falcone, Elisa Fazzi, Bárbara Gardella, Roberta Giacchero, Paola Guerini, Elena Grossi, Maria Luisa Magnani, Eloisa Mariani, Renata Nacinovich, Dario Pantaleo, Camilla Pisoni, Federico Prefumo, Caterina Sabatini, Barbara Scelsa, Maria Valentina Spartà, Arsenio Spinillo, Roberto Giorda, Simona Orcesi, Renato Borgatti

    Published 2021
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  5. 5
    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 by 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

    Published 2012
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  6. 6
    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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  7. 7
    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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  8. 8
    <i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

    <i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance by Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Carola G.M. van Berkel, Marcello Niceta, Tiziana Langella, Daniela Verrigni, Teresa Rizza, Daria Diodato, Fiorella Piemonte, Eleonora Lamantea, Mingyan Fang, Jianguo Zhang, Diego Martinelli, Elsa Bevivino, Carlo Dionisi‐Vici, Adeline Vanderver, Sunny Philip, Manju A. Kurian, Ishwar C. Verma, Sunita Bijarnia‐Mahay, Sandra Jacinto, Fátima Furtado, Patrizia Accorsi, Anna Ardissone, Isabella Moroni, Ileana Ferrero, Marco Tartaglia, P Goffrini, Daniele Ghezzi, Marjo S. van der Knaap, Enrico Bertini

    Published 2016
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  9. 9
    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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  10. 10
    Quality controls of cryopreserved haematopoietic progenitor cells (peripheral blood, cord blood, bone marrow)

    Quality controls of cryopreserved haematopoietic progenitor cells (peripheral blood, cord blood, bone marrow) by Konrad Rosskopf, Scott J. Ragg, Nina Worel, Monique Grommé, Frank Preijers, Eric Braakman, G.J. Schuurhuis, Ivan Van Riet, Silvano Wendel, Rita Fontão‐Wendel, Alexander J. Lazar, Mindy Goldman, Michael Halpenny, Antonio Giulivi, Brenda Letcher, L.E. McGann, Matti Korhonen, A. Arvola, Andreas Humpe, Ute Buwitt‐Beckmann, M. Wiesneth, Peter Schauwecker, H Schrezenmeier, Halvard Bönig, R Henschler, Erhard Seifried, Patrizia Accorsi, T. Bonfini, Minoko Takanashi, J. M. van Beckhoven, Anneke Brand, D. Gounder, A Wong, R. Dooccey, Ewan Forrest, George Galea, Jon Smythe, Rachel Pawson, Jo‐Anna Reems, Joo Youn Oh, H. W. Reesink, Stephanie Panzer

    Published 2011
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  11. 11
    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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  12. 12
    <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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  13. 13
    Mowat-Wilson syndrome: growth charts

    Mowat-Wilson syndrome: growth charts by Ivan Ivanovski, Olivera Djurić, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P Adam, Kristina Avela, Magdalena Badura‐Stronka, Allan Bayat, Jill Clayton‐Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Čuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Engel Hoei‐Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Nielsen, Vladimir Kuburović, Brissia Lazalde-Medina, Barış Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, María Luisa Poch-Olivé, Igor Prpić, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Śmigiel, George A. Tanteles, Luigi Tarani, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

    Published 2020
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  14. 14
    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE by Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Ríos, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Sımona Baldassari, Francesca Beccaria, Antonella Boni, M Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Anna Rita Ferrari, Elena Fiorini, Francesca Madia, Elena Di Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud F. Toonen, Federico Zara, Ingo Helbig, Pasquale Striano

    Published 2022
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  15. 15
    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients by Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Fabia Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djurić, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Barış Malbora, Isabella Mammi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, María Luisa Poch-Olivé, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B. Dobyns, Alex R. Paciorkowski

    Published 2016
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  16. 16
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care by Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    Published 2018
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  17. 17
    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 by 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

    Published 2021
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