Resultados da pesquisa - Francesca Madia
- A mostrar 1 - 9 resultados de 9
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Diagnostic Approach to Macrocephaly in Children Por Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra
Publicado em 2022Revisão -
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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy Por Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, De Falco Fa, Pasquale Striano, F. Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara
Publicado em 2010Artigo -
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Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease Por Silvana Franceschetti, Antonio Gambardella, Laura Canafoglia, Pasquale Striano, Hannes Lohi, Elena Di Gennaro, Leonarda Ianzano, Pierangelo Veggiotti, Vito Sofia, Roberto Biondi, Salvatore Striano, Cinzia Gellera, Grazia Annesi, Francesca Madia, Donatella Civitelli, Francesca E. Rocca, Aldo Quattrone, G. Avanzini, Berge A. Minassian, Federico Zara
Publicado em 2006Artigo -
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Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations Por 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
Publicado em 2007Artigo -
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study Por Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara
Publicado em 2021Artigo -
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Diagnostic implications of genetic copy number variation in epilepsy plus Por Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik, Berten Ceulemans, J. Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman‐Zacharska, R. Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R. Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C. Mefford, Deborah Morrogh, Peter Nüernberg, Aarno Palotie, An‐Sofie Schoonjans, Pasquale Striano, Elżbieta Szczepanik, Anna Tostevin, Joris Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J. Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M. Sisodiya, Carla Marini
Publicado em 2019Revisão -
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Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE Por 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
Publicado em 2022Artigo -
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Por Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ãngel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia
Publicado em 2019Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Medicine
Biology
Epilepsy
Gene
Genetics
Neuroscience
Internal medicine
Atrophy
Environmental health
Genotype
Myoclonic epilepsy
Pathology
Pediatrics
Physics
Population
Psychiatry
Psychology
AMPA receptor
ARDS
Activities of daily living
Age of onset
Astronomy
Astrophysics
Asymptomatic
Bioinformatics
Clinical neurology
Cohort
Copy-number variation
Course (navigation)
Creatine kinase