Zobrazeno 1 - 10
of 1 894
pro vyhledávání: '"aicardi–goutières syndrome"'
Publikováno v:
Pediatric Investigation, Vol 8, Iss 3, Pp 193-200 (2024)
ABSTRACT Importance Aicardi–Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited. Objective To summarize the neurologic phenoty
Externí odkaz:
https://doaj.org/article/f160898a41ac41acb3c566f041dcc4b9
Autor:
Wei Wang, Siming Peng, Sihao Gao, Meiying Quan, Lijuan Gou, Changyan Wang, Zhixing Sun, Zhuo Li, Dongmei Lian, Hongmei Song
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-6 (2023)
Abstract Background Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy characterized by upregulation of the type I interferon pathway, poorly responsive to conventional immunosuppression. Case presentation We describe a
Externí odkaz:
https://doaj.org/article/9d596b9ca1174adf9f97c4ad4cb235dc
Autor:
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/3fe63f5679824882a78a685fa671eea6
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels
Externí odkaz:
https://doaj.org/article/d43e3dafd5414e259a32170cb93358a7
Akademický článek
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Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. AGS has a phenotype similar to intrau
Externí odkaz:
https://doaj.org/article/6f8bda0afc8444c6b24b1cdca41b03ff
Publikováno v:
Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-16 (2022)
Abstract Background Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative disease with clinical features of early-onset encephalopathy and progressive loss of intellectual abilities and motor control. Gene mutations in seven protein-codin
Externí odkaz:
https://doaj.org/article/6fe0cd6e96324a66a1c177e43811448f
Autor:
Jessica Galli, Marco Cattalini, Erika Loi, Rosalba Monica Ferraro, Silvia Giliani, Simona Orcesi, Lorenzo Pinelli, Raffaele Badolato, Elisa Fazzi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message Baricitinib, a Janus kinase inhibitor (JAK‐inhibitor), seems to contribute to an improvement of a child affected by Aicardi‐Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, com
Externí odkaz:
https://doaj.org/article/ce9d1c8917e54d20a9c225c03f5ebd97
Akademický článek
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Akademický článek
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