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654 results for Aicardi-Goutières+syndrome

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Select record 21
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Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain
Author / Creator:Guo, Xinfeng ; Wiley, Clayton A. ; Steinman, Richard A. ; Sheng, Yi ; Ji, Beihong ; Wang, Junmei ; Zhang, Liyong ; Wang, Tony ; Zenatai, Mazen ; Billiar, Timothy R. ; Wang, Qingde
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2021-07, Vol.18 (1), p.169-169, Article 169
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Aicardi-Goutières Syndrome - a neonatal clinical report
Author / Creator:Aguiar, Barbara Ribeiro de ; Oliveira, Sara Torres ; Cavaco, Hugo ; Prado, Sara Noeme ; Saldanha, Joana ; Quintas, Sofia
Journal title:Pediatriconcall : a complete child health care, 2027, Vol.24 (2)
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Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome
Author / Creator:Jafarpour, Saba ; Suddock, Jolee ; Hawes, Debra ; Santoro, Jonathan D.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2024-04, Vol.44 (3), p.68-68, Article 68
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JAK Inhibition in the Aicardi–Goutières Syndrome
Author / Creator:Adang, Laura ; Goldbach-Mansky, Raphaela ; Vanderver, Adeline
Journal title:The New England journal of medicine, 2020-11, Vol.383 (22), p.2191-2193
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S3116 Novel Nodules: A Previously Unreported Manifestation of Aicardi-Goutières Syndrome
Author / Creator:Houle, Matthew ; Lorio, Eric ; Hansen, Austin ; Moehlen, Martin
Publisher:Philadelphia, PA: Wolters Kluwer
Journal title:The American journal of gastroenterology, 2022-10, Vol.117 (10S), p.e2002-e2003
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Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome
Author / Creator:Cattalini, Marco ; Galli, Jessica ; Andreoli, Laura ; Olivieri, Ivana ; Ariaudo, Giada ; Fredi, Micaela ; Orcesi, Simona ; Tincani, Angela ; Fazzi, Elisa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2016-10, Vol.36 (7), p.693-699
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Innate immune activation without immune cell infiltration in brains of murine models of Aicardi‐Goutières Syndrome
Author / Creator:Wiley, Clayton A. ; Steinman, Richard A. ; Wang, Qingde
Publisher:Switzerland: John Wiley & Sons, Inc
Journal title:Brain pathology (Zurich, Switzerland), 2023-05, Vol.33 (3), p.e13118-n/a
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Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
Author / Creator:Peixoto de Barcelos, Isabella ; Bueno, Clarissa ; S. Godoy, Luís Filipe ; Pessoa, André ; A. Costa, Larissa ; C. Monti, Fernanda ; Souza-Cabral, Katiane ; Listik, Clarice ; Castro, Diego ; Della-Ripa, Bruno ; Freua, Fernando ; C. Pires, Laís ; T. Krüger, Lia ; D. Gherpelli, José Luiz ; B. Piazzon, Flavia ; P. Monteiro, Fabiola ; T. Lucato, Leandro ; Kok, Fernando
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2023-08, Vol.13 (8), p.1169
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Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi–Goutières Syndrome and Singleton–Merten Syndrome
Author / Creator:Gosu, Vijayakumar ; Sasidharan, Santanu ; Saudagar, Prakash ; Lee, Hak-Kyo ; Shin, Donghyun
Publisher:Basel: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2021-08, Vol.11 (8), p.1251
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Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer
Author / Creator:Deasy, Sarah K. ; Uehara, Ryo ; Vodnala, Suman K. ; Yang, Howard H. ; Dass, Randall A. ; Hu, Ying ; Lee, Maxwell P. ; Crouch, Robert J. ; Hunter, Kent W.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-05, Vol.15 (5), p.e1008020-e1008020
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A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation
Author / Creator:Chenhan, Zheng ; Jun, Shao ; Yang, Ding ; Linliang, Yin ; Xiaowen, Gu ; Chunya, Ji ; Xuedong, Deng
Publisher:England: BioMed Central
Journal title:BMC pregnancy and childbirth, 2023-02, Vol.23 (1), p.124-124, Article 124
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Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
Author / Creator:Beerepoot, Shanice ; Grinwis, Lucas ; Vanderver, Adeline L. ; van der Knaap, Marjo S. ; Kuijpers, Taco W.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-04, Vol.20 (1), p.155-4, Article 155
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Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
Author / Creator:Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip ; Vallaeys, Lore ; Meuwissen, Marije ; Janssens, Katrien ; Verloo, Patrick ; Ogunjimi, Benson ; Hemelsoet, Dimitri ; Hoste, Levi ; Roels, Lisa ; De Bruyne, Marieke ; De Baere, Elfride ; Van Dorpe, Jo ; Dendooven, Amélie ; Sieben, Anne ; Rice, Gillian I. ; Kerre, Tessa ; Beyaert, Rudi ; Uggenti, Carolina ; Crow, Yanick J. ; Tavernier, Simon J. ; Maelfait, Jonathan ; Haerynck, Filomeen
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-07, Vol.42 (5), p.962-974
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Select record 34
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Interferon‐α and the calcifying microangiopathy in Aicardi–Goutières syndrome
Author / Creator:Klok, Melanie D. ; Bakels, Hannah S. ; Postma, Nienke L. ; Spaendonk, Rosalina M. L. ; Knaap, Marjo S. ; Bugiani, Marianna
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2015-07, Vol.2 (7), p.774-779
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Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
Author / Creator:Wu, Chang-Chun ; Peng, Steven Shinn-Forng ; Lee, Wang-Tso
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2020-11, Vol.41 (11), p.3353-3356
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Talents Amidst Neurological Impairment; an Interesting Case of Aicardi–Goutières Syndrome
Author / Creator:Tabibi, Pooneh ; Shiari, Reza ; Sharafian, Samin ; Shiari, Sara
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2025-05, Vol.13 (5), p.e70530-n/a
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Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China
Author / Creator:Zhang, Shen ; Zhang, Weihua ; Ding, Changhong ; Ren, Xiaotun ; Fang, Fang ; Wu, Yun
Publisher:United States: John Wiley & Sons, Inc
Journal title:Pediatric investigation, 2024-09, Vol.8 (3), p.193-200
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101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndrome
Author / Creator:Bulić, Dora ; Škorić, Tea ; Žigman, Tamara ; Krnjak, Goran ; Tešović, Goran ; Barišić, Nina ; Barić, Ivo ; Ramadža, Danijela Petković
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A43-A43
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Aicardi-Goutières syndrome: unusual neuro-radiological manifestations
Author / Creator:Abdel-Salam, Ghada M. H. ; Abdel-Hamid, Mohamed S. ; Mohammad, Shaimaa A. ; Abdel-Ghafar, Sherif F. ; Soliman, Doaa R. ; EL-Bassyouni, Hala T. ; Effat, Laila ; Zaki, Maha S.
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2017-06, Vol.32 (3), p.679-683
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Author / Creator:Shibata, Yuri ; Shibata, Akimichi ; Mizuguchi, Takeshi ; Matsumoto, Naomichi ; Osaka, Hitoshi
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-08, Vol.11 (1), p.33-4, Article 33
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Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain

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Aicardi-Goutières Syndrome - a neonatal clinical report

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Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome

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JAK Inhibition in the Aicardi–Goutières Syndrome

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S3116 Novel Nodules: A Previously Unreported Manifestation of Aicardi-Goutières Syndrome

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Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

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Innate immune activation without immune cell infiltration in brains of murine models of Aicardi‐Goutières Syndrome

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Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype

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Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi–Goutières Syndrome and Singleton–Merten Syndrome

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Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer

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A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation

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Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1

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Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

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Interferon‐α and the calcifying microangiopathy in Aicardi–Goutières syndrome

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Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report

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Talents Amidst Neurological Impairment; an Interesting Case of Aicardi–Goutières Syndrome

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Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China

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101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndrome

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Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

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