The effects of disease-modifying therapies in SMA-5q type 1 and the importance of early diagnosis of the disease.
作者信息
Zanoteli Edmar
机构信息
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
出版信息
Arq Neuropsiquiatr. 2024 Nov;82(11):1-2. doi: 10.1055/s-0044-1800927. Epub 2024 Dec 15.
Abstract
摘要
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本文引用的文献
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Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.1 型脊肌萎缩症患者在接受疾病修正治疗前后的队列研究。
Arq Neuropsiquiatr. 2024 Nov;82(11):1-8. doi: 10.1055/s-0044-1791757. Epub 2024 Nov 6.
2
Why should a 5q spinal muscular atrophy neonatal screening program be started?为什么要启动 5q 脊髓性肌萎缩症新生儿筛查项目？
Arq Neuropsiquiatr. 2024 Oct;82(10):1-9. doi: 10.1055/s-0044-1791201. Epub 2024 Oct 13.
3
Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort.脊髓性肌萎缩症的基因替代疗法：巴西队列中的安全性和初步疗效
Gene Ther. 2024 Jul;31(7-8):391-399. doi: 10.1038/s41434-024-00456-y. Epub 2024 Jun 5.
4
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.巴西神经病学学会关于5q脊髓性肌萎缩症诊断、遗传咨询及疾病修饰疗法应用的共识
Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5.
5
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen.脊髓性肌萎缩症 1 型患者接受 nusinersen 治疗的临床结局。
J Neuromuscul Dis. 2021;8(2):217-224. doi: 10.3233/JND-200533.
6
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience.真实世界中用nusinersen 治疗晚发型脊髓性肌萎缩症患者的数据：单中心经验。
J Neuromuscul Dis. 2021;8(1):101-108. doi: 10.3233/JND-200551.
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Intragenic variants in the gene determine the clinical phenotype in 5q spinal muscular atrophy.该基因中的基因内变异决定了5q脊髓性肌萎缩症的临床表型。
Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct.
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Identification and characterization of a spinal muscular atrophy-determining gene.一种脊髓性肌萎缩症决定基因的鉴定与特征分析。
Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3.
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International SMA consortium meeting. (26-28 June 1992, Bonn, Germany).
Neuromuscul Disord. 1992;2(5-6):423-8. doi: 10.1016/s0960-8966(06)80015-5.
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