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Aicardi-Goutières syndrome due to a paternal mosaic mutation.

作者信息

Tüngler Victoria, Doebler-Neumann Marion, Salandin Michaela, Kaufmann Peter, Wolf Christine, Lucas Nadja, Harmuth Florian, Reichbauer Jennifer, Krägeloh-Mann Ingeborg, Schüle Rebecca, Lee-Kirsch Min Ae

机构信息

Department of Pediatrics (V.T., C.W., N.L., M.A.L.-K.), Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden; Department of Neuropediatrics (M.D.-N., I.K.-M.), University of Tübingen, Germany; Child Neurology and Psychiatry Unit (M.S.), Paediatric Department, Bolzano Regional Hospital; Child Haematology and Oncology Unit (P.K.), Paediatric Department, Bolzano Regional Hospital, Italy; Institute of Medical Genetics and Applied Genomics (F.H.), University of Tübingen; and Center for Neurology and Hertie-Institute for Clinical Brain Research (J.R., R.S.), University of Tübingen and German Center of Neurodegenerative Diseases, Germany.

出版信息

Neurol Genet. 2019 Dec 19;6(1):e384. doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb.

DOI:10.1212/NXG.0000000000000384
PMID:32042913
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6936312/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd2d/6936312/1c2c71ef47f7/NG2019011197f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd2d/6936312/1c2c71ef47f7/NG2019011197f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd2d/6936312/1c2c71ef47f7/NG2019011197f1.jpg

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The type I interferonopathies: 10 years on.

本文引用的文献

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JAMA Dermatol. 2019 Mar 1;155(3):342-346. doi: 10.1001/jamadermatol.2018.5077.
2
An open-label trial of JAK 1/2 blockade in progressive -associated neuroinflammation.一项关于JAK 1/2阻断剂在进行性相关神经炎症中的开放标签试验。
Neurology. 2018 Feb 6;90(6):289-291. doi: 10.1212/WNL.0000000000004921. Epub 2018 Jan 10.
3
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients.
Ⅰ型干扰素病：10 年进展。
Nat Rev Immunol. 2022 Aug;22(8):471-483. doi: 10.1038/s41577-021-00633-9. Epub 2021 Oct 20.
在儿科和年轻成人 CANDLE 和 SAVI 患者中，口服 JAK1 和 JAK2 抑制剂巴瑞替尼的药代动力学、药效学和建议剂量。
Clin Pharmacol Ther. 2018 Aug;104(2):364-373. doi: 10.1002/cpt.936. Epub 2017 Dec 8.
4
The Type I Interferonopathies.Ⅰ型干扰素病。
Annu Rev Med. 2017 Jan 14;68:297-315. doi: 10.1146/annurev-med-050715-104506. Epub 2016 Nov 2.
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