Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.
作者信息
Nou-Fontanet Laia, García-Navas Deyanira, Gómez-Martín Hilario, Martorell Loreto, Ortigoza-Escobar Juan Darío
机构信息
Pediatric Neurology Department Hospital Sant Joan de Déu Barcelona Barcelona Spain.
Department of Pediatric Neurology Hospital Universitario San Pedro de Alcántara Cáceres Spain.
出版信息
Mov Disord Clin Pract. 2023 Mar 20;10(6):1013-1015. doi: 10.1002/mdc3.13724. eCollection 2023 Jun.
Abstract
摘要
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本文引用的文献
1
Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.单亲二体导致与罗素-西尔弗综合征相关的肌阵挛性肌张力障碍
Mov Disord Clin Pract. 2019 May 7;6(5):409-410. doi: 10.1002/mdc3.12768. eCollection 2019 Jun.
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Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome: Two syndromes caused by one genetic defect.儿童神经病学：罗素-西尔弗综合征中的肌阵挛性肌张力障碍：由一种基因缺陷导致的两种综合征。
Neurology. 2020 Aug 18;95(7):e936-e938. doi: 10.1212/WNL.0000000000010076. Epub 2020 Jul 7.
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Identifying facial phenotypes of genetic disorders using deep learning.利用深度学习识别遗传疾病的面部表型。
Nat Med. 2019 Jan;25(1):60-64. doi: 10.1038/s41591-018-0279-0. Epub 2019 Jan 7.
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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Silver-Russell 综合征的诊断和管理：首个国际共识声明。
Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.
5
A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.唑尼沙胺治疗肌阵挛性肌张力障碍的随机、对照、双盲、交叉试验。
Neurology. 2016 May 3;86(18):1729-35. doi: 10.1212/WNL.0000000000002631. Epub 2016 Apr 6.
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Myoclonus-dystonia syndrome associated with Russell Silver syndrome.与罗素-西尔弗综合征相关的肌阵挛-肌张力障碍综合征
Mov Disord. 2013 Jun;28(6):841-2. doi: 10.1002/mds.25483. Epub 2013 May 23.
7
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.由母源单亲二体 7 号染色体引起的肌阵挛-肌张力障碍和 Silver-Russell 综合征。
Clin Genet. 2013 Oct;84(4):368-72. doi: 10.1111/cge.12075. Epub 2013 Jan 20.
8
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J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3.
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