Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Claudio, De Felice"'
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
Autor:
Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura, Caterina Fazzi, Roberto Canitano, Salvatore Grosso, Ilaria Meloni, Margherita Baldassarri, Susanna Croci, Alessandra Renieri, Mario Mastrangelo, Claudio De Felice
Publikováno v:
Children, Vol 10, Iss 9, p 1442 (2023)
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural hi
Externí odkaz:
https://doaj.org/article/cdcfb895c61d4be8a944410f5a023c07
Autor:
Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Our aim was to assess the
Externí odkaz:
https://doaj.org/article/fd2e5538d6c6424f90cd1436eea23b25
Autor:
Javier Flores Gutiérrez, Claudio De Felice, Giulia Natali, Silvia Leoncini, Cinzia Signorini, Joussef Hayek, Enrico Tongiorgi
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-20 (2020)
Abstract Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mec
Externí odkaz:
https://doaj.org/article/e9c206f504bc44938e584a685ba6c052
Autor:
Cinzia Signorini, Claudio De Felice, Thierry Durand, Jean-Marie Galano, Camille Oger, Silvia Leoncini, Joussef Hayek, Jetty Chung-Yung Lee, Troy C. Lund, Paul J. Orchard
Publikováno v:
Life, Vol 12, Iss 2, p 146 (2022)
Cerebral adrenoleukodystrophy (ALD) is a rare neuroinflammatory disorder characterized by progressive demyelination. Mutations within the ABCD1 gene result in very long-chain fatty acid (VLCFA) accumulation within the peroxisome, particularly in the
Externí odkaz:
https://doaj.org/article/bc865557751049409a39ae36f35da006
Autor:
Francesco Strati, Antonio Calabrò, Claudio Donati, Claudio De Felice, Joussef Hayek, Olivier Jousson, Silvia Leoncini, Daniela Renzi, Lisa Rizzetto, Carlotta De Filippo, Duccio Cavalieri
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-9 (2018)
Abstract Background Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene. It has been shown that MeCP2 impairments can lead to cytokine dysregulation due to MeCP2 regulatory role in T-helper and T-reg mediated respo
Externí odkaz:
https://doaj.org/article/bce5f58ed04040c1aea9a006d5049e86
Autor:
Cinzia Signorini, Elena Moretti, Daria Noto, Simona Mattioli, Cesare Castellini, Nicola Antonio Pascarelli, Thierry Durand, Camille Oger, Jean-Marie Galano, Claudio De Felice, Jetty Chung-Yung Lee, Giulia Collodel
Publikováno v:
Life, Vol 11, Iss 7, p 655 (2021)
F4-neuroprostanes (F4-NeuroPs), derived from the oxidative metabolization of docosahexaenoic acid (DHA), are considered biomarkers of oxidative stress in neurodegenerative diseases. Neurons and spermatozoa display a high DHA content. NeuroPs might po
Externí odkaz:
https://doaj.org/article/6b33785b8a614f9ba4abe2f8582e4419
Autor:
Gabriele Tonni, Marcella Palmisano, Mario Lituania, Gianpaolo Grisolia, Ave Maria Baffico, Maria Paola Bonasoni, Pierpaolo Pattacini, Claudio De Felice, Edward Araujo Júnior
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 771-776 (2016)
Objective: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and Methods: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathw
Externí odkaz:
https://doaj.org/article/2418a01ca5374ee2a4b7e5172c9c86fe
Autor:
Feliciana Real-Fernández, Giulia Pacini, Francesca Nuti, Giulia Conciarelli, Claudio De Felice, Joussef Hayek, Paolo Rovero, Anna Maria Papini
Publikováno v:
Substantia, Vol 3, Iss 2 (2019)
Antibodies against myelin oligodendrocyte glycoprotein (MOG) are associated to several disorders, and their occurrence in patients presenting an acquired demyelinating disease affects a higher proportion of paediatric subjects, as compared to adults.
Externí odkaz:
https://doaj.org/article/31dcf2a04a024c8d9d751abfd049ea96
Autor:
Cinzia Signorini, Silvia Leoncini, Thierry Durand, Jean-Marie Galano, Alexandre Guy, Valérie Bultel-Poncé, Camille Oger, Jetty Chung-Yung Lee, Lucia Ciccoli, Joussef Hayek, Claudio De Felice
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8, p 4240 (2021)
Neuroprostanes, a family of non-enzymatic metabolites of the docosahexaenoic acid, have been suggested as potential biomarkers for neurological diseases. Objective biological markers are strongly needed in Rett syndrome (RTT), which is a progressive
Externí odkaz:
https://doaj.org/article/42f9fbca88304d4cb28720560726d260