Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Federica Graziola"'
Autor:
Laura Papetti, Maria Elisa Amodeo, Letizia Sabatini, Melissa Baggieri, Alessandro Capuano, Federica Graziola, Antonella Marchi, Paola Bucci, Emilio D’Ugo, Maedeh Kojouri, Silvia Gioacchini, Carlo Efisio Marras, Carlotta Ginevra Nucci, Fabiana Ursitti, Giorgia Sforza, Michela Ada Noris Ferilli, Gabriele Monte, Romina Moavero, Federico Vigevano, Massimiliano Valeriani, Fabio Magurano
Publikováno v:
Viruses, Vol 14, Iss 4, p 733 (2022)
Subacute sclerosing panencephalitis (SSPE) is a late complication of measles virus infection that occurs in previously healthy children. This disease has no specific cure and is associated with a high degree of disability and mortality. In recent yea
Externí odkaz:
https://doaj.org/article/dc2eff4760ae46428c1cd6ce21f43fa0
Autor:
Federica Graziola, Chiara Pellorca, Lorena Di Criscio, Federico Vigevano, Paolo Curatolo, Alessandro Capuano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by motor and vocal tics. Co-occurrence of attention-deficit/hyperactivity disorder (ADHD) or obsessive–compulsive disorder (OCD) is very frequent in the pediatric population as w
Externí odkaz:
https://doaj.org/article/72fcb20d86c84036b7d5627e0e943d50
Autor:
Federica Graziola, Sabrina Maffi, Melissa Grasso, Giacomo Garone, Simone Migliore, Eugenia Scaricamazza, Consuelo Ceccarelli, Melissa Casella, Ludovica Busi, Barbara D’Alessio, Alessandro De Luca, Giovanna Stefania Colafati, Umberto Sabatini, Alessandro Capuano, Ferdinando Squitieri
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 1, p 120 (2022)
The “Spazio Huntington—A Place for Children” program was launched in 2019. The aim was to contact at risk kids within Huntington disease (HD) families, to provide counseling to their parents and to start a prospective follow-up of kids suspicio
Externí odkaz:
https://doaj.org/article/d1694290b8ea4872acd3087160558331
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 16, p 3541 (2021)
GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function an
Externí odkaz:
https://doaj.org/article/82aeba27c4534158aca396f218f15685
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 12, p 2671 (2021)
Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the
Externí odkaz:
https://doaj.org/article/e3de3f1e26784ac993b53e7aefddf23e
Autor:
Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, Chih-Yung Tang, Alessandro Capuano, Luca Bosco, Federica Graziola, Emanuele Bellacchio, Serenella Servidei, Guido Primiano, Bing-Wen Soong, Chung-Jiuan Jeng
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4986 (2021)
KCND3 encodes the voltage-gated potassium channel KV4.3 that is highly expressed in the cerebellum, where it regulates dendritic excitability and calcium influx. Loss-of-function KV4.3 mutations have been associated with dominant spinocerebellar atax
Externí odkaz:
https://doaj.org/article/15759d31a21342909ceea688dad5cfb8
Autor:
Federica Graziola, Giacomo Garone, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnost
Externí odkaz:
https://doaj.org/article/1874444fa32c4d48aa00f200ab5c2cc5
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 5, Iss C, Pp 13-16 (2016)
Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a
Externí odkaz:
https://doaj.org/article/2bba3bca15c049e6b90f6f301feea29b
Autor:
Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 10, p 3603 (2020)
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs
Externí odkaz:
https://doaj.org/article/b78d6173440443a1bd96c3b3e8e7eac2
Autor:
Laura Rachele Bettini, Federica Graziola, Grazia Fazio, Paolo Grazioli, Valeria Scagliotti, Mariavittoria Pasquini, Giovanni Cazzaniga, Andrea Biondi, Lidia Larizza, Angelo Selicorni, Carles Gaston-Massuet, Valentina Massa
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 2, p 438 (2018)
Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental disorders named cohesinopaties,
Externí odkaz:
https://doaj.org/article/c0272e38085b4e9fadadb719c6326eca