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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.onasemnogene abeparvovec基因疗法在D-A-CH地区脊髓性肌萎缩症儿童中的疗效和安全性：一项基于人群的观察性研究。
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.新生儿脊髓性肌萎缩症筛查的临床效果：一项非随机对照试验。
JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492.
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Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.onasemnogene abeparvovec治疗1型脊髓性肌萎缩症儿童的疗效和安全性：来自英国6个输注中心的真实世界证据
Lancet Reg Health Eur. 2023 Dec 11;37:100817. doi: 10.1016/j.lanepe.2023.100817. eCollection 2024 Feb.
4
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.脊髓性肌萎缩症的联合疾病修正治疗：一种分类建议。
Ann Clin Transl Neurol. 2023 Nov;10(11):2155-2160. doi: 10.1002/acn3.51889. Epub 2023 Sep 10.
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Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.脊髓性肌萎缩症治疗在新生儿筛查识别患者中的应用：系统评价。
Genes (Basel). 2023 Jun 29;14(7):1377. doi: 10.3390/genes14071377.
6
Universal newborn screening for spinal muscular atrophy in Ukraine.乌克兰对脊髓性肌萎缩症进行新生儿普遍筛查。
Lancet. 2023 Jul 22;402(10398):288-289. doi: 10.1016/S0140-6736(23)01281-3.
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Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.症状或新生儿筛查发现的脊髓性肌萎缩症患者的经济成本和生活质量。
Dev Med Child Neurol. 2023 Jan;65(1):67-77. doi: 10.1111/dmcn.15286. Epub 2022 Jun 8.
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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.全球脊髓性肌萎缩症新生儿筛查计划：现状与展望。
Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7.
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Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.时间是运动神经元：脊髓性肌萎缩症的治疗窗口及其与发病机制的相关性。
Mol Neurobiol. 2018 Aug;55(8):6307-6318. doi: 10.1007/s12035-017-0831-9. Epub 2018 Jan 2.
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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.依库珠单抗治疗婴儿型脊髓性肌萎缩症的疗效观察
N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

Gene therapy for spinal muscular atrophy: timing is key.

作者信息

Servais Laurent

机构信息

MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford and NIHR Oxford Biomedical Research Center, Oxford OX3 9DU, United Kingdom.

Neuromuscular Center of Liège, Division of Paediatrics, CHU and University of Liège, 1 Bvd du XII de Ligne, Liège 4000, Belgium.

出版信息

Lancet Reg Health Eur. 2024 Oct 21;47:101112. doi: 10.1016/j.lanepe.2024.101112. eCollection 2024 Dec.

DOI:10.1016/j.lanepe.2024.101112
PMID:39502079
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11535371/
Abstract
摘要