相似文献
1
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
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.
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.
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.
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.
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.
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.
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.
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.
Neurol India. 2002 Jun;50(2):187-9.
10
Progressive dystonia masking ataxia in ataxia-telangiectasia.
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.
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.
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.
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.
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.
Front Immunol. 2022 Jan 14;12:779502. doi: 10.3389/fimmu.2021.779502. eCollection 2021.
6
Contemporary functional neuroanatomy and pathophysiology of dystonia.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25.
8
Ataxia-telangiectasia: without ataxia or telangiectasia?
Neurology. 2009 Aug 11;73(6):414-5. doi: 10.1212/WNL.0b013e3181b39140. Epub 2009 Jul 15.
9
Ataxia without telangiectasia.
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.
Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600.
Zotero 插件