• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

NR4A2 and Dystonia with Dopa Responsiveness.

作者信息

Winter Benedikt, Krämer Johannes, Meinhardt Tamara, Berner Daniel, Alt Kerstin, Wenzel Maren, Winkelmann Juliane, Zech Michael

机构信息

Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, Ulm University, Ulm, Germany.

Pädiatrische BAG, Ulm, Germany.

出版信息

Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21.

DOI:10.1002/mds.28701
PMID:34155693
Abstract
摘要

相似文献

1
NR4A2 and Dystonia with Dopa Responsiveness.NR4A2与多巴反应性肌张力障碍
Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21.
2
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.NR4A2 基因功能丧失突变导致多巴反应性肌张力障碍帕金森综合征。
Mov Disord. 2020 May;35(5):880-885. doi: 10.1002/mds.27982. Epub 2020 Jan 10.
3
Dopa-responsive dystonia and paroxysmal dystonic attacks associated with gene variant.多巴反应性肌张力障碍和发作性运动障碍伴基因变异。
Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.
4
Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.与CACNA1B相关的肌张力障碍的全身性肌张力障碍表现及其对左旋多巴的反应。
Acta Neurol Belg. 2023 Aug;123(4):1537-1539. doi: 10.1007/s13760-022-01988-z. Epub 2022 Jun 13.
5
Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.一名因新型纯合子MAN2B1错义变异导致α-甘露糖苷贮积症患者出现左旋多巴反应性孤立性全身性肌张力障碍——一种新型关联。
Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S8-S10. doi: 10.1002/mdc3.13963. Epub 2024 Jan 20.
6
Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).伴有GCH-1基因第5外显子新型杂合突变（E183K）的Segawa病
Brain Dev. 2009 Feb;31(2):173-5. doi: 10.1016/j.braindev.2008.05.012. Epub 2008 Jul 14.
7
A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.一个 GCH-1 突变导致的多巴反应性肌张力障碍病例，需要高剂量左旋多巴治疗。
Tremor Other Hyperkinet Mov (N Y). 2021 Jun 24;11:23. doi: 10.5334/tohm.619.
8
Neurodevelopmental disorder with dystonia due to SOX6 mutations.SOX6 基因突变致神经发育障碍伴张力障碍。
Mol Genet Genomic Med. 2022 Dec;10(12):e2051. doi: 10.1002/mgg3.2051. Epub 2022 Sep 7.
9
Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia.
Mov Disord. 2021 Aug;36(8):1986-1987. doi: 10.1002/mds.28679. Epub 2021 Jun 11.
10
Dopa-responsive dystonia.
Indian Pediatr. 2001 Sep;38(9):1056-8.

引用本文的文献

1
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.肌张力障碍的遗传多样性与扩展表型：来自大规模外显子组测序的见解
Ann Clin Transl Neurol. 2025 Jun 18. doi: 10.1002/acn3.70100.
2
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.肌张力障碍的遗传多样性与扩展表型：来自大规模外显子组测序的见解
medRxiv. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741.
3
as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
作为发育性和癫痫性脑病的新靶标基因：相关疾病障碍和治疗策略的系统综述。
Int J Mol Sci. 2024 May 10;25(10):5198. doi: 10.3390/ijms25105198.
4
Next-generation sequencing and bioinformatics in rare movement disorders.下一代测序和罕见运动障碍的生物信息学。
Nat Rev Neurol. 2024 Feb;20(2):114-126. doi: 10.1038/s41582-023-00909-9. Epub 2024 Jan 3.
5
Aberrant somatic calcium channel function in cNurr1 and LRRK2-G2019S mice.cNurr1和LRRK2-G2019S小鼠中异常的体细胞钙通道功能。
NPJ Parkinsons Dis. 2023 Apr 7;9(1):56. doi: 10.1038/s41531-023-00500-5.
6
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.儿童期起病的癫痫和发育性癫痫性脑病后继发早发性帕金森病。
Int J Mol Sci. 2023 Feb 14;24(4):3796. doi: 10.3390/ijms24043796.
7
Two novel heterozygous truncating variants in identified in patients with neurodevelopmental disorder and brief literature review.在神经发育障碍患者中鉴定出两个新的杂合截短变体并进行简要文献综述。
Front Neurosci. 2022 Aug 3;16:956429. doi: 10.3389/fnins.2022.956429. eCollection 2022.