Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Stefania Maria Bova"'
Autor:
Sara Olivotto, Alessandra Duse, Stefania Maria Bova, Valeria Leonardi, Elia Biganzoli, Alberto Milanese, Cristina Cereda, Simona Bertoli, Roberto Previtali, Pierangelo Veggiotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, l
Externí odkaz:
https://doaj.org/article/61430e110c674fdc94c08119135ace0a
Autor:
Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Stefania Maria Bova
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unre
Externí odkaz:
https://doaj.org/article/f65a9632b6de4621a9abe519a6db4bf0
Autor:
Gianvincenzo Zuccotti, Valeria Calcaterra, Savina Mannarino, Enza D’Auria, Stefania Maria Bova, Laura Fiori, Elvira Verduci, Alberto Milanese, Giuseppe Marano, Massimo Garbin, Salvatore Zirpoli, Valentina Fabiano, Patrizia Carlucci, Sara Olivotto, Laura Gianolio, Raffaella De Santis, Gloria Pelizzo, Elena Zoia, Dario Dilillo, Elia Mario Biganzoli
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundA severe multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 has been described after infection. A limited number of reports have analyzed the long-term complications related to pro-inflammatory status in MIS-C. We e
Externí odkaz:
https://doaj.org/article/8b3f2e3524c44cb0b40278abef8ee8e7
Autor:
Chiara Po', Margherita Nosadini, Marialuisa Zedde, Rosario Pascarella, Giuseppe Mirone, Domenico Cicala, Anna Rosati, Alessandra Cosi, Irene Toldo, Raffaella Colombatti, Paola Martelli, Alessandro Iodice, Patrizia Accorsi, Lucio Giordano, Salvatore Savasta, Thomas Foiadelli, Giuseppina Sanfilippo, Elvis Lafe, Federico Zappoli Thyrion, Gabriele Polonara, Serena Campa, Federico Raviglione, Barbara Scelsa, Stefania Maria Bova, Filippo Greco, Duccio Maria Cordelli, Luigi Cirillo, Francesco Toni, Valentina Baro, Francesco Causin, Anna Chiara Frigo, Agnese Suppiej, Laura Sainati, Danila Azzolina, Manuela Agostini, Elisabetta Cesaroni, Luigi De Carlo, Gabriella Di Rosa, Giacomo Esposito, Luisa Grazian, Giovanna Morini, Francesco Nicita, Francesca Felicia Operto, Dario Pruna, Paola Ragazzi, Massimo Rollo, Alberto Spalice, Pasquale Striano, Aldo Skabar, Luigi Alberto Lanterna, Andrea Carai, Carlo Efisio Marras, Renzo Manara, Stefano Sartori
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6–10% of all childhood strokes and transient i
Externí odkaz:
https://doaj.org/article/1dfd86fbbdb64ff195e4b6f0f25a4c9c
Autor:
Sara Olivotto, Anna Freddi, Rossella Lavatelli, Eleonora Basso, Alessia Leidi, Barbara Castellotti, Luigina Spaccini, Stefania Maria Bova, Pierangelo Veggiotti
Publikováno v:
Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100544- (2022)
Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset seve
Externí odkaz:
https://doaj.org/article/caa619c8297c430cb9128574f1b2054b
Autor:
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13560 (2022)
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst
Externí odkaz:
https://doaj.org/article/ed81d56e8fa94c219634a698252dec89
Autor:
Elisabetta Di Profio, Alessandro Leone, Sara Vizzuso, Giulia Fiore, Martina Chiara Pascuzzi, Marta Agostinelli, Dario Dilillo, Savina Mannarino, Laura Fiori, Enza D’Auria, Valentina Fabiano, Patrizia Carlucci, Stefania Maria Bova, Elena Zoia, Alessandra Bosetti, Valeria Calcaterra, Simona Bertoli, Elvira Verduci, Gianvincenzo Zuccotti
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 76:505-511
Autor:
Cereda, Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 13560
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst
Autor:
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly and movement disorders (e.g. spasticity and dyston
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96d31c503ad796d6768346062facccdc
https://doi.org/10.1101/2022.09.26.509448
https://doi.org/10.1101/2022.09.26.509448
Autor:
Stefania Maria, Bova, Ludovica, Serafini, Pietro, Capetti, Andrea Riccardo, Dallapiccola, Chiara, Doneda, Arianna, Gadda, Luisa, Lonoce, Alessandra, Vittorini, Savina, Mannarino, Pierangelo, Veggiotti, Mirko, Gambino
Publikováno v:
Frontiers in pediatrics. 10
ObjectiveTo describe neurological involvement in multisystem inflammatory syndrome in children (MIS-C) and to evaluate whether neurological manifestations are related to the degree of multiorgan involvement and inflammation.MethodsThe authors conduct