Zobrazeno 1 - 10
of 113
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:
Francesco Calì, Mirella Vinci, Simone Treccarichi, Carla Papa, Angelo Gloria, Antonino Musumeci, Concetta Federico, Girolamo Aurelio Vitello, Antonio Gennaro Nicotera, Gabriella Di Rosa, Luigi Vetri, Salvatore Saccone, Maurizio Elia
Publikováno v:
Genes, Vol 15, Iss 8, p 1096 (2024)
Hypoxic-ischemic brain damage presents a significant neurological challenge, often manifesting during the perinatal period. Specifically, periventricular leukomalacia (PVL) is emerging as a notable contributor to cerebral palsy and intellectual disab
Externí odkaz:
https://doaj.org/article/6d82b8d47451460aaa99220f960f9412
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:
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
Autor:
Giorgia Pepe, Roberto Coco, Domenico Corica, Gabriella Di Rosa, Filip Bossowski, Magdalena Skorupska, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska
Publikováno v:
Genes, Vol 15, Iss 3, p 287 (2024)
Systematic data on endocrinopathies in Rett syndrome (RTT) patients remain limited and inconclusive. The aim of this retrospective observational two-center study was to assess the prevalence of endocrinopathies in a pediatric population of RTT patien
Externí odkaz:
https://doaj.org/article/cb562fd3f6ce45c88072b42fe16c4d06
Autor:
Paolo Di Bella, Anna Gaia Attardi, Ambra Butera, Arianna Mancini, Nunzia Calabrò, Elisa Giuseppa Lo Re, Giuseppe Trimarchi, Antonio Gennaro Nicotera, Gabriella Di Rosa, Daniela Lo Giudice
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 2, p 152 (2024)
The post-COVID-19 condition is defined by the World Health Organization as the persistence of symptoms or development of new symptoms three months after the initial SARS-CoV-2 infection, lasting for at least two months without a clear explanation. Ne
Externí odkaz:
https://doaj.org/article/58c3b9a6b00c4fc294d97923c8dab6fc
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 2, p 156 (2024)
This article explores the complex relationship between genetics and cognition, specifically examining the impact of genetic variants, particularly single nucleotide polymorphisms (SNPs), on cognitive functions and the development of neuropsychiatric
Externí odkaz:
https://doaj.org/article/8c428546ff444376a5eb48a9baa75f4b
Autor:
Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
Publikováno v:
Genes, Vol 14, Iss 12, p 2111 (2023)
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosom
Externí odkaz:
https://doaj.org/article/8fff66e7cc934840bbb968c3dbcda6a4