Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Cinzia Galasso"'
Autor:
Ilaria Frattale, Rachele Sarnataro, Martina Siracusano, Assia Riccioni, Cinzia Galasso, Massimiliano Valeriani, Giuseppina Conteduca, Domenico Coviello, Luigi Mazzone, Romina Moavero
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundSotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. SoS population might present cognitive impairment and a spectrum of behavioral character
Externí odkaz:
https://doaj.org/article/2354074acd1a4a7d9e135a7de48a698f
Autor:
Mariacarolina Vacca, Mariana Fernandes, Lorenzo Veronese, Andrea Ballesio, Caterina Cerminara, Cinzia Galasso, Luigi Mazzone, Caterina Lombardo, Nicola Biagio Mercuri, Claudio Liguori
Publikováno v:
Brain Sciences, Vol 14, Iss 1, p 21 (2023)
Background: The transition to adult care for patients with epilepsy is a complicated clinical issue associated with adverse outcomes, including non-adherence to treatment, dropout of medical care, and worse prognosis. Moreover, youngsters with epilep
Externí odkaz:
https://doaj.org/article/5fd557c7228e47b381ebb278564460cb
Autor:
Martina Siracusano, Assia Riccioni, Leonardo Emberti Gialloreti, Eugenia Segatori, Lucrezia Arturi, Michelangelo Vasta, Maria Cristina Porfirio, Monica Terribili, Cinzia Galasso, Luigi Mazzone
Publikováno v:
Brain Sciences, Vol 11, Iss 8, p 1040 (2021)
Parenting a child with a disability, such as neurodevelopmental disorders and genetic syndromes, implies a high level of stress. During the COVID-19 outbreak—as a period implying additional challenges—few studies have specifically investigated ca
Externí odkaz:
https://doaj.org/article/60a9c7f5748744ef960bad8715464bcb
Autor:
Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D’Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marini
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/ca4a5efff3834f5aae38c88c3d351b02
Publikováno v:
Formazione & Insegnamento, Vol 14, Iss 1 (2016)
La sindrome di Rett (RTT) è una patologia neurologica progressiva di origine genetica, X linked, che colpisce quasi esclusivamente il sesso femminile. Presenta la concomitanza di disturbi percettivi, motori e cognitivi che determinano l’impossibil
Externí odkaz:
https://doaj.org/article/43fc8a2364604bad90cd836cbff5ef8a
Autor:
Gurrieri, Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1353
Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectual d
Autor:
Martina Siracusano, Assia Riccioni, Ilaria Frattale, Lucrezia Arturi, Caterina Dante, Cinzia Galasso, Leonardo Emberti Gialloreti, Giuseppina Conteduca, Barbara Testa, Michela Malacarne, Domenico Coviello, Luigi Mazzone
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Cinzia GALASSO, Livia CASARELLI, Nadia EL MALHANY, Simonetta SPIRIDIGLIOZZI, Maria B. PITZIANTI, Paolo CURATOLO, Augusto PASINI
Publikováno v:
Minerva Pediatrics. 75
Autor:
Letizia Camerota, Antonio Suppa, Luís Pires, Susana Isabel Ferreira, Cinzia Galasso, Anna Maria Nardone, Isabel M. Carreira, Fernando De Maio, Francesco Brancati, Silvia Lanciotti, Lina Ramos, Joana B. Melo, Giacomo Cinnirella
Publikováno v:
American Journal of Medical Genetics Part A. 182:2694-2698
Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corrobora
Autor:
Luisa Campagnolo, Cinzia Galasso, Marta Elena Santarone, Silvia Di Cesare, Joussef Hayek, Chiara Ciaccio, Augusto Orlandi, Grazia R. Tundo, Donato Di Pierro, Maurizio D'Esposito, Paolo Curatolo, Diego Sbardella, Massimiliano Coletta, Giuseppe Valacchi, Giovanna Borsellino, Stefano Marini
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (MeCP2) gene. This