无共济失调和毛细血管扩张的孤立性节段性肌张力障碍中的共济失调毛细血管扩张基因突变
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
作者信息
Necpál Ján, Zech Michael, Škorvánek Matej, Havránková Petra, Fečíková Anna, Winkelmann Juliane, Jech Robert
机构信息
Department of Neurology Zvolen Hospital Zvolen Slovakia.
Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.
出版信息
Mov Disord Clin Pract. 2017 Dec 3;5(1):89-91. doi: 10.1002/mdc3.12564. eCollection 2018 Jan-Feb.
相似文献
1
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.无共济失调和毛细血管扩张的孤立性节段性肌张力障碍中的共济失调毛细血管扩张基因突变
Mov Disord Clin Pract. 2017 Dec 3;5(1):89-91. doi: 10.1002/mdc3.12564. eCollection 2018 Jan-Feb.
2
Imaging Evidence of Nigrostriatal Degeneration in DYT-PRKRA.DYT-PRKRA中黑质纹状体变性的影像学证据。
Mov Disord Clin Pract. 2020 Apr 6;7(4):472-474. doi: 10.1002/mdc3.12941. eCollection 2020 May.
3
Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.表现为阵发性非运动诱发性运动障碍的1型发作性共济失调（钾通道病）：扩展表型
Mov Disord Clin Pract. 2017 Jul 31;4(5):784-786. doi: 10.1002/mdc3.12518. eCollection 2017 Sep-Oct.
4
Reversible Acute Parkinsonism and Unusual Neuroimaging Findings in Systemic Lupus Erythematosus.系统性红斑狼疮中的可逆性急性帕金森综合征及异常神经影像学表现
Mov Disord Clin Pract. 2020 Apr 7;7(4):459-461. doi: 10.1002/mdc3.12943. eCollection 2020 May.
5
Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.印度12型脊髓小脑共济失调基因诊断病例的临床特征
Mov Disord Clin Pract. 2017 Nov 1;5(1):39-46. doi: 10.1002/mdc3.12551. eCollection 2018 Jan-Feb.
6
Delayed Hypersensitivity Reaction to OnabotulinumtoxinA.对A型肉毒杆菌毒素的迟发型超敏反应。
Mov Disord Clin Pract. 2018 Mar 9;5(3):321-322. doi: 10.1002/mdc3.12575. eCollection 2018 May-Jun.
7
Is it Useful to Classify Progressive Supranuclear Palsy and Corticobasal Degeneration as Different Disorders? No.将进行性核上性麻痹和皮质基底节变性归类为不同疾病是否有用？否。
Mov Disord Clin Pract. 2018 Mar 6;5(2):141-144. doi: 10.1002/mdc3.12582. eCollection 2018 Mar-Apr.
8
Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.共济失调毛细血管扩张症中的肌张力障碍：一例具有新突变的病例报告
Oman Med J. 2020 Feb 17;35(1):e93. doi: 10.5001/omj.2020.11. eCollection 2020 Jan.
9
Dystonia as presenting manifestation of ataxia telangiectasia : a case report.肌张力障碍作为共济失调毛细血管扩张症的首发表现：一例报告
Neurol India. 2002 Jun;50(2):187-9.
10
Progressive dystonia masking ataxia in ataxia-telangiectasia.共济失调毛细血管扩张症中进行性肌张力障碍掩盖共济失调
Arch Neurol. 1980 Jul;37(7):464-5. doi: 10.1001/archneur.1980.00500560094020.
引用本文的文献
1
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase.以肌张力障碍和震颤为表现的迟发性共济失调毛细血管扩张症：利用纳米孔长读长测序解决变异相位问题。
Neurol Genet. 2024 Apr 2;10(2):e200141. doi: 10.1212/NXG.0000000000200141. eCollection 2024 Apr.
2
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.一个肌张力障碍为主型共济失调毛细血管扩张症中国家系中ATM基因的两个新型杂合突变及文献复习
Front Pediatr. 2023 Mar 15;11:975696. doi: 10.3389/fped.2023.975696. eCollection 2023.
3
Skin Conditions and Movement Disorders: Hiding in Plain Sight.皮肤疾病与运动障碍：隐匿于众目睽睽之下。
Mov Disord Clin Pract. 2022 Mar 24;9(5):566-583. doi: 10.1002/mdc3.13436. eCollection 2022 Jul.
4
The natural history of ataxia-telangiectasia (A-T): A systematic review.共济失调毛细血管扩张症（A-T）的自然病史：系统评价。
PLoS One. 2022 Mar 15;17(3):e0264177. doi: 10.1371/journal.pone.0264177. eCollection 2022.
5
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.变异型共济失调毛细血管扩张症不典型共济失调表现：伊朗病例系列及文献复习。
Front Immunol. 2022 Jan 14;12:779502. doi: 10.3389/fimmu.2021.779502. eCollection 2021.
6
Contemporary functional neuroanatomy and pathophysiology of dystonia.现代扭转痉挛的功能神经解剖学和病理生理学。
J Neural Transm (Vienna). 2021 Apr;128(4):499-508. doi: 10.1007/s00702-021-02299-y. Epub 2021 Jan 24.
7
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.印度特发性肌张力障碍与 TOR1A 和 GCH1 多态性的关联。
J Mol Neurosci. 2021 Feb;71(2):325-337. doi: 10.1007/s12031-020-01653-1. Epub 2020 Jul 13.
8
Orange is the new black: Kinases are the new master regulators of tumor suppression.橙色即新黑：激酶成为肿瘤抑制的新主控调节因子。
IUBMB Life. 2019 Jun;71(6):738-748. doi: 10.1002/iub.1981. Epub 2018 Dec 11.
本文引用的文献
1
Ataxia telangiectasia: a review.共济失调毛细血管扩张症：综述
Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7.
2
Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.共济失调毛细血管扩张症——历史回顾及新命名提议：ATM综合征
J Neurol Sci. 2015 Aug 15;355(1-2):3-6. doi: 10.1016/j.jns.2015.05.022. Epub 2015 May 29.
3
Clinical variability in ataxia-telangiectasia.共济失调毛细血管扩张症的临床变异性
J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10.
4
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.进行性肌阵挛性癫痫伴多动伴多巴反应性肌张力障碍。
Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.
5
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.ATM基因双等位基因错义突变导致的孤立性全身性肌张力障碍
Mov Disord. 2013 Nov;28(13):1897-9. doi: 10.1002/mds.25487. Epub 2013 May 2.
6
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.加拿大门诺派人群中以原发性肌张力障碍起病的变异型共济失调-毛细血管扩张症。
Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15.
7
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.ATM 蛋白的存在和残余激酶活性与共济失调毛细血管扩张症的表型相关：一项基因型-表型研究。
Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25.
8
Ataxia-telangiectasia: without ataxia or telangiectasia?共济失调毛细血管扩张症：无共济失调或毛细血管扩张？
Neurology. 2009 Aug 11;73(6):414-5. doi: 10.1212/WNL.0b013e3181b39140. Epub 2009 Jul 15.
9
Ataxia without telangiectasia.无毛细血管扩张性共济失调
Mov Disord. 1993 Apr;8(2):223-6. doi: 10.1002/mds.870080222.
10
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.一个与PI-3激酶产物相似的共济失调毛细血管扩张症基因。
Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600.
Zotero 插件