Cannabidiol in the acute phase of febrile infection‐related epilepsy syndrome (FIRES)
Fetta, Anna, Crotti, Elisa, Campostrini, Elena, Bergonzini, Luca, Cesaroni, Carlo Alberto, Conti, Francesca, Di Pisa, Veronica, Gentile, Valentina, Mondardini, Maria Cristina, Vezzoli, Cesare, Giordano, Lucio, Cordelli, Duccio Maria
Published in Epilepsia open (01.06.2023)
Published in Epilepsia open (01.06.2023)
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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Fetta, Anna, Toni, Francesco, Pettenuzzo, Ilaria, Ricci, Emilia, Rocca, Alessandro, Gambi, Caterina, Soliani, Luca, Di Pisa, Veronica, Martini, Silvia, Sperti, Giacomo, Cagnazzo, Valeria, Accorsi, Patrizia, Bartolini, Emanuele, Battaglia, Domenica, Bernardo, Pia, Canevini, Maria Paola, Ferrari, Anna Rita, Giordano, Lucio, Locatelli, Chiara, Mancardi, Margherita, Orsini, Alessandro, Pippucci, Tommaso, Pruna, Dario, Rosati, Anna, Suppiej, Agnese, Tagliani, Sara, Vaisfeld, Alessandro, Vignoli, Aglaia, Izumi, Kosuke, Krantz, Ian, Cordelli, Duccio Maria
Published in Orphanet journal of rare diseases (08.03.2024)
Published in Orphanet journal of rare diseases (08.03.2024)
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Journal Article
Neurological Phenotype of Mowat-Wilson Syndrome
Cordelli, Duccio Maria, Di Pisa, Veronica, Fetta, Anna, Garavelli, Livia, Maltoni, Lucia, Soliani, Luca, Ricci, Emilia
Published in Genes (27.06.2021)
Published in Genes (27.06.2021)
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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale
Published in Italian journal of pediatrics (06.07.2020)
Published in Italian journal of pediatrics (06.07.2020)
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Journal Article
Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study
Fetta, Anna, Di Pisa, Veronica, Ruscelli, Martina, Soliani, Luca, Sperti, Giacomo, Ubertiello, Sara, Ricci, Emilia, Mainieri, Greta, Rocca, Alessandro, Mancardi, Maria Margherita, Giordano, Lucio, Pruna, Dario, Vignoli, Aglaia, Provini, Federica, Cordelli, Duccio Maria
Published in Frontiers in neurology (16.12.2021)
Published in Frontiers in neurology (16.12.2021)
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Journal Article
Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals
Fetta, Anna, Soliani, Luca, Trevisan, Alessia, Pugliano, Rosa, Ricci, Emilia, Di Pisa, Veronica, Pignataro, Veronica, Angotti, Marida, Rocca, Alessandro, Salce, Bianca, Mancardi, Maria Margherita, Giordano, Lucio, Pruna, Dario, Parmeggiani, Antonia, Cordelli, Duccio Maria
Published in Genes (16.02.2022)
Published in Genes (16.02.2022)
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Journal Article
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria
Published in Genes (30.01.2022)
Published in Genes (30.01.2022)
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Journal Article
Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment
Di Pisa, Veronica, Cecconi, Ilaria, Gentile, Valentina, Di Pietro, Elena, Marchiani, Valentina, Verrotti, Alberto, Franzoni, Emilio
Published in Journal of child neurology (01.12.2012)
Published in Journal of child neurology (01.12.2012)
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Journal Article
Pediatric epilepsies misdiagnosed as gastrointestinal disorders
Carbonari, Giulia, Tonti, Giacomo, Di Pisa, Veronica, Franzoni, Emilio, Cordelli, Duccio Maria
Published in Epilepsy & behavior (01.06.2018)
Published in Epilepsy & behavior (01.06.2018)
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Journal Article
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
Pettenuzzo, Ilaria, Carli, Sara, Sánchez-Cuesta, Ana, Isidori, Federica, Montanari, Francesca, Grippa, Mina, Lanzoni, Giulia, Ambrosetti, Irene, Di Pisa, Veronica, Cordelli, Duccio Maria, Mondardini, Maria Cristina, Pippucci, Tommaso, Ragni, Luca, Cenacchi, Giovanna, Costa, Roberta, Lima, Mario, Capristo, Maria Antonietta, Tropeano, Concetta Valentina, Caporali, Leonardo, Carelli, Valerio, Brunelli, Elena, Maffei, Monica, Ahmed Sheikhmaye, Hodman, Fetta, Anna, Brea-Calvo, Gloria, Garone, Caterina
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study
Di Pisa, Veronica, Provini, Federica, Ubertiello, Sara, Bonetti, Silvia, Ricci, Emilia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Giordano, Lucio, Accorsi, Patrizia, Savasta, Salvatore, Raviglione, Federico, Boni, Antonella, Grioni, Daniele, Graziano, Claudio, Garavelli, Livia, Cordelli, Duccio Maria
Published in Sleep medicine (01.09.2019)
Published in Sleep medicine (01.09.2019)
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Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
Ricci, Emilia, Fetta, Anna, Garavelli, Livia, Caraffi, Stefano, Ivanovski, Ivan, Bonanni, Paolo, Accorsi, Patrizia, Giordano, Lucio, Pantaleoni, Chiara, Romeo, Antonino, Arena, Alessia, Bonetti, Silvia, Boni, Antonella, Chiarello, Daniela, Di Pisa, Veronica, Epifanio, Roberta, Faravelli, Francesca, Finardi, Erica, Fiumara, Agata, Grioni, Daniele, Mammi, Isabella, Negrin, Susanna, Osanni, Elisa, Raviglione, Federico, Rivieri, Francesca, Rizzi, Romana, Savasta, Salvatore, Tarani, Luigi, Zanotta, Nicoletta, Dormi, Ada, Vignoli, Aglaia, Canevini, Mariapaola, Cordelli, Duccio M.
Published in Epilepsy & behavior (01.11.2021)
Published in Epilepsy & behavior (01.11.2021)
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Journal Article
Mowat-Wilson syndrome: growth charts
Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Maller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia
Published in Orphanet journal of rare diseases (15.06.2020)
Published in Orphanet journal of rare diseases (15.06.2020)
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Journal Article
Refractory absence seizures: An Italian multicenter retrospective study
Franzoni, Emilio, Matricardi, Sara, Di Pisa, Veronica, Capovilla, Giuseppe, Romeo, Antonino, Tozzi, Elisabetta, Pruna, Dario, Salerno, Grazia Gabriella, Zamponi, Nelia, Accorsi, Patrizia, Giordano, Lucio, Coppola, Giangennaro, Cerminara, Caterina, Curatolo, Paolo, Nicita, Francesco, Spalice, Alberto, Grosso, Salvatore, Pavone, Piero, Striano, Pasquale, Parisi, Pasquale, Boni, Antonella, Gobbi, Giuseppe, Carotenuto, Marco, Esposito, Maria, Cottone, Carlo, Verrotti, Alberto
Published in European journal of paediatric neurology (01.11.2015)
Published in European journal of paediatric neurology (01.11.2015)
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Journal Article
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction
Pettenuzzo, Ilaria, Carli, Sara, Sánchez-Cuesta, Ana, Isidori, Federica, Montanari, Francesca, Grippa, Mina, Lanzoni, Giulia, Ambrosetti, Irene, Di Pisa, Veronica, Cordelli, Duccio Maria, Mondardini, Maria Cristina, Pippucci, Tommaso, Ragni, Luca, Cenacchi, Giovanna, Costa, Roberta, Lima, Mario, Capristo, Maria Antonietta, Tropeano, Concetta Valentina, Caporali, Leonardo, Carelli, Valerio, Brunelli, Elena, Maffei, Monica, Ahmed Sheikhmaye, Hodman, Fetta, Anna, Brea-Calvo, Gloria, Garone, Caterina
Published in European journal of human genetics : EJHG (03.05.2024)
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Published in European journal of human genetics : EJHG (03.05.2024)
Journal Article
Mowat-Wilson Syndrome: Growth Charts
Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Veronica Di Pisa, Juliette Dupont Garcia, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Jens Erik Klint Nielsen, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marin Reina Purificacion, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Samantha Schrier Vergano, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Paolo Giorgi Rossi, Garavelli, Livia
Published in Orphanet Journal of Rare Diseases (19.05.2020)
Published in Orphanet Journal of Rare Diseases (19.05.2020)
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