Resultats de la cerca - Marina Trivisano

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  1. 1
    <p>Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy</p>

    <p>Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy</p> per Nicola Specchio, Nicola Pietrafusa, Marina Trivisano

    Publicat 2020
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  2. 2
    Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

    Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease per Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca De Palma, Federico Vigevano

    Publicat 2017
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  3. 3
    Panayiotopoulos syndrome: A clinical, EEG, and neuropsychological study of 93 consecutive patients

    Panayiotopoulos syndrome: A clinical, EEG, and neuropsychological study of 93 consecutive patients per Nicola Specchio, Marina Trivisano, Vincenzo Di Ciommo, Simona Cappelletti, Giovanni Masciarelli, Josiv Volkov, Lucia Fusco, Federico Vigevano

    Publicat 2010
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  4. 4
    Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

    Autism and Epilepsy in Patients With Tuberous Sclerosis Complex per Nicola Specchio, Nicola Pietrafusa, Marina Trivisano, Romina Moavero, Luca De Palma, Alessandro Ferretti, Federico Vigevano, Paolo Curatolo

    Publicat 2020
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  5. 5
    <i><scp>PCDH</scp>19</i>‐related epilepsy in two mosaic male patients

    <i><scp>PCDH</scp>19</i>‐related epilepsy in two mosaic male patients per Antonio Terracciano, Marina Trivisano, Raffaella Cusmai, Luca De Palma, Lucia Fusco, Claudia Compagnucci, Enrico Bertini, Federico Vigevano, Nicola Specchio

    Publicat 2016
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  6. 6
    Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis

    Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis per Sara Petrillo, Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Francisco Torres Saura, Maria Giovanna Gallo, Enrico Bertini, Federico Vigevano, Nicola Specchio, Fiorella Piemonte

    Publicat 2021
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  7. 7
    Reduced steroidogenesis in patients with <scp>PCDH</scp>19‐female limited epilepsy

    Reduced steroidogenesis in patients with <scp>PCDH</scp>19‐female limited epilepsy per Marina Trivisano, Chiara Lucchi, Cecilia Rustichelli, Antonio Terracciano, Raffaella Cusmai, Grazia Maria Ubertini, Germana Giannone, Enrico Bertini, Federico Vigevano, Jozef Gécz, Giuseppe Biagini, Nicola Specchio

    Publicat 2017
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  8. 8
    Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to <scp><i>KCNT1</i></scp> Variants: An Open Label Study

    Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to <scp><i>KCNT1</i></scp> Variants: An Open Label Study per Marina Trivisano, Ilaria Mosca, Licia Salimbene, Angela De Dominicis, Paolo Ambrosino, Deborah Puzo, Ilenio Servettini, Cinzia Correale, Chiara Falamesca, Cristina Filosomi, Bianca Maria Goffredo, Maria Virginia Soldovieri, Maurizio Taglialatela, Nicola Specchio

    Publicat 2025
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  9. 9
    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 per 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

    Publicat 2020
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  10. 10
    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 per 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

    Publicat 2017
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  11. 11
    Gain of function <i>SCN1A</i> disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

    Gain of function <i>SCN1A</i> disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication per Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podestà, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazza

    Publicat 2023
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  12. 12
    Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

    Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study per Angela Schulz, Nicola Specchio, Emily de los Reyes, Paul Gissen, Miriam Nickel, Marina Trivisano, Shawn C. Aylward, Anupam Chakrapani, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Douglas Ballon, Jonathan P. Dyke, Anu Cherukuri, Shailesh Bondade, Peter Slasor, Jessica Cohen Pfeffer

    Publicat 2023
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  13. 13
    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures per Rosemary Burgess, Shuyu Wang, Amy McTague, Katja Boysen, Xiaoling Yang, Qi Zeng, Kenneth A. Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G. Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yuehua Zhang, Heather C. Mefford, Manju A. Kurian, Annapurna Poduri, Ingrid E. Scheffer

    Publicat 2019
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  14. 14
    International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

    International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder per Sam Amin, Marie Monaghan, Ángel Aledo‐Serrano, Nadia Bahi‐Buisson, Richard Chin, Angus Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana-Knight, Heather E. Olson, Carol‐Anne Partridge, G. W. Stuart, Marina Trivisano, Sameer M. Zuberi, Tim A. Benke

    Publicat 2022
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  15. 15
    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk per Karen Oliver, Marina Trivisano, Simone Mandelstam, Angela De Dominicis, David Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Métreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaëtan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer

    Publicat 2023
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  16. 16
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy per 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

    Publicat 2018
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  17. 17
    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 per 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

    Publicat 2018
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  18. 18
    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features per Cristina Elena Niturad, Dorit Lev, Vera M. Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman‐Sagie, Hester Y. Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzońca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Hölger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A. Haas, Peter Nürnberg, Koen L.I. van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky‐Silver

    Publicat 2017
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  19. 19
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations per Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Publicat 2018
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  20. 20
    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE per 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

    Publicat 2022
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