Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Stefano D'Arrigo"'
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 13, p 3750 (2024)
In the digital age, artificial intelligence (AI) is emerging as a transformative force in various sectors, including medicine. This article explores the potential of AI, which is akin to the magical genie of Aladdin’s lamp, particularly within thor
Externí odkaz:
https://doaj.org/article/c20362a48f894d48898b6f0621274e78
Autor:
Silvia Maria Marchese, Fulvia Palesi, Anna Nigri, Maria Grazia Bruzzone, Chiara Pantaleoni, Claudia A. M. Gandini Wheeler-Kingshott, Stefano D’Arrigo, Egidio D’Angelo, Paolo Cavallari
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionWithin Pediatric Cerebellar Ataxias (PCAs), patients with non-progressive ataxia (NonP) surprisingly show postural motor behavior comparable to that of healthy controls, differently to slow-progressive ataxia patients (SlowP). This differ
Externí odkaz:
https://doaj.org/article/8b94a85680eb417389b7e9aafec54585
Autor:
Sara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, Francesca L. Sciacca, Chiara Pantaleoni, Stefano D'Arrigo
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the F
Externí odkaz:
https://doaj.org/article/24af25f031fb42cda4b7583c25f6b092
Autor:
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Publikováno v:
Cell Death and Disease, Vol 13, Iss 11, Pp 1-16 (2022)
Abstract Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs
Externí odkaz:
https://doaj.org/article/3481a3d58ebf491c977d49d933ec8e59
Autor:
Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti, Naire Sansotta, Silvia Caimmi, Salvatore Savasta, Giovanna Zuin, Marina Di Stefano, Silvia Provera, Angelo Campanozzi, Paolo Rossi, Simona Gatti, Mara Corpino, Patrizia Alvisi, Stefano Martelossi, Agnese Suppiej, Paolo Gandullia, Alberto Verrotti, Gianluca Terrin, Caterina Pacenza, Fabiola Fornaroli, Donatella Comito, Stefano D’Arrigo, Pasquale Striano, Federico Raviglione, Marco Carotenuto, Alessandro Orsini, Vincenzo Belcastro, Giovanna Di Corcia, Vincenzo Raieli, Michela Ada Noris Ferilli, Claudia Ruscitto, Elisabetta Spadoni, Salvatore Grosso, Renato D’Alonzo, Amanda Papa, Piero Pavone, Mariaclaudia Meli, Mario Velardita, Martina Mainetti, Nicola Vanacore, Osvaldo Borrelli
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-9 (2022)
Abstract Background Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and th
Externí odkaz:
https://doaj.org/article/2aea540e6a29406da26f892dd9d53b66
Autor:
Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina
Publikováno v:
Genes, Vol 14, Iss 9, p 1664 (2023)
Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIB
Externí odkaz:
https://doaj.org/article/ed785606f81a4f49a60d1afaeac57fc8
Autor:
Matilde Taddei, Silvia Esposito, Gianluca Marucci, Alessandra Erbetta, Paolo Ferroli, Laura Grazia Valentini, Chiara Pantaleoni, Stefano D’Arrigo, Veronica Saletti, Bianca Pollo, Rosina Paterra, Daria Riva, Sara Bulgheroni
Publikováno v:
Diagnostics, Vol 13, Iss 9, p 1568 (2023)
Background: The present mono-institutional report aimed to describe the cognitive and behavioral outcomes of low-grade central nervous system (CNS) tumors in a cohort of children treated exclusively with surgical intervention. Methods: Medical record
Externí odkaz:
https://doaj.org/article/1b71910ce9294f37b4b7cc8466d2a245
Autor:
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D’Arrigo, Paolo Cavallari
Publikováno v:
Brain Sciences, Vol 13, Iss 4, p 620 (2023)
We recently investigated the role of the cerebellum during development, reporting that children with genetic slow-progressive ataxia (SlowP) show worse postural control during quiet stance and gait initiation compared to healthy children (H). Instead
Externí odkaz:
https://doaj.org/article/3bfc9d5f32de4a1596737fb8649d104e
Autor:
Xianru Jiao, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Stefano D’Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Pan Gong, Katheryn Grand, Pedro A. Sanchez-Lara, Joel Krier, Elizabeth Fieg, Andrew Stergachis, Xiaodong Wang, Zhixian Yang
Publikováno v:
Frontiers in Pharmacology, Vol 11 (2020)
Objective: To establish and broaden the phenotypic spectrum of secretory carrier membrane protein (SCAMP5) associated with epilepsy and neurodevelopmental delay.Methods: A Chinese patient was identified at the First Hospital of Peking University, and
Externí odkaz:
https://doaj.org/article/d740c58945824289a9e8fdfb68e49580
Autor:
Francesca L. Sciacca, Claudia Ciaccio, Federica Fontana, Camilla Strano, Francesca Gilardoni, Chiara Pantaleoni, Stefano D’Arrigo
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Homozygous and compound heterozygous mutations in GNB5 gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epil
Externí odkaz:
https://doaj.org/article/0d5642eb0c884dc1b2430e749c28bd2a