Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Gabriella di Rosa"'
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 6, Pp 5632-5654 (2024)
Chorea is a hyperkinetic movement disorder frequently observed in the pediatric population, and, due to advancements in genetic techniques, an increasing number of genes have been associated with this disorder. In genetic conditions, chorea may be th
Externí odkaz:
https://doaj.org/article/03b3bfef33994774a418575c25d212f8
Autor:
Silvia Leoncini, Lidia Boasiako, Sofia Di Lucia, Amir Beker, Valeria Scandurra, Aglaia Vignoli, Maria Paola Canevini, Giulia Prato, Lino Nobili, Antonio Gennaro Nicotera, Gabriella Di Rosa, Maria Beatrice Testa Chiarini, Renato Cutrera, Salvatore Grosso, Giacomo Lazzeri, Enrico Tongiorgi, Pasquale Morano, Matteo Botteghi, Alessandro Barducci, Claudio De Felice
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundSleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding pr
Externí odkaz:
https://doaj.org/article/430948dcef224d4c848df2bb60b2a065
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/19a6f4b3752d4c8db76776510ff7ff99
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2024)
Brain development is a complex process that begins during pregnancy, and the events occurring during this sensitive period can affect the offspring’s neurodevelopmental outcomes. Respiratory viral infections are frequently reported in pregnant wome
Externí odkaz:
https://doaj.org/article/b56900f9f8f34684bfbf91c5ec4d958e
Autor:
Daniela Dicanio, Giulia Spoto, Angela Alibrandi, Roberta Minutoli, Antonio Gennaro Nicotera, Gabriella Di Rosa
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Prematurity represents 10.6% of all births, and although preterm infants usually show adequate neurodevelopmental outcomes, some may develop significant and long-lasting neurological sequelae. Many studies have analyzed predictive factors for develop
Externí odkaz:
https://doaj.org/article/2c5ec9801ff04287b0ac5533c6467a60
Autor:
Marilena Briguglio, Laura Turriziani, Arianna Currò, Antonella Gagliano, Gabriella Di Rosa, Daniela Caccamo, Alessandro Tonacci, Sebastiano Gangemi
Publikováno v:
Brain Sciences, Vol 13, Iss 6, p 883 (2023)
Early and accurate diagnosis of autism spectrum disorders (ASD) and tailored therapeutic interventions can improve prognosis. ADOS-2 is a standardized test for ASD diagnosis. However, owing to ASD heterogeneity, the presence of false positives remain
Externí odkaz:
https://doaj.org/article/97a55c8ece2b431cb1a447cb62c00a47
Autor:
Sara Manti, Federica Xerra, Giulia Spoto, Ambra Butera, Eloisa Gitto, Gabriella Di Rosa, Antonio Gennaro Nicotera
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7089 (2023)
Neurotrophins (NTs) are a group of soluble growth factors with analogous structures and functions, identified initially as critical mediators of neuronal survival during development. Recently, the relevance of NTs has been confirmed by emerging clini
Externí odkaz:
https://doaj.org/article/4908305cd7d940038402c492555f6a67
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:
Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Ambra Butera, Greta Amore, Vincenzo Salpietro, Antonio Gennaro Nicotera, Gabriella Di Rosa
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The proper connection between the pre- and post-synaptic nervous cells depends on any element constituting the synapse: the pre- and post-synaptic membranes, the synaptic cleft, and the surrounding glial cells and extracellular matrix. An alteration
Externí odkaz:
https://doaj.org/article/ad246fbbaac9484e875cef929612506f