• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Pre-symptomatic spinal muscular atrophy: a proposed nosology.

作者信息

Finkel Richard S, Benatar Michael

机构信息

Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

Department of Neurology, University of Miami, Miami, FL 33136, USA.

出版信息

Brain. 2022 Jul 29;145(7):2247-2249. doi: 10.1093/brain/awac125.

DOI:10.1093/brain/awac125
PMID:35429273
Abstract
摘要

相似文献

1
Pre-symptomatic spinal muscular atrophy: a proposed nosology.症状前脊髓性肌萎缩症：一种拟议的疾病分类学。
Brain. 2022 Jul 29;145(7):2247-2249. doi: 10.1093/brain/awac125.
2
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?脊髓性肌萎缩症患者的缺失和转换：与严重程度有关系吗？
Ann Neurol. 1997 Feb;41(2):230-7. doi: 10.1002/ana.410410214.
3
Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy.掀起屋顶：提高脊髓性肌萎缩症疗法的疗效。
Neuron. 2017 Jan 4;93(1):3-5. doi: 10.1016/j.neuron.2016.12.029.
4
Molecular genetic study of a childhood form of spinal muscular atrophy.儿童型脊髓性肌萎缩症的分子遗传学研究
J Child Neurol. 2001 Apr;16(4):291-4. doi: 10.1177/088307380101600412.
5
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.一种主要影响下肢的显性先天性脊髓性肌萎缩症基因定位于12号染色体q23 - q24区域。
Eur J Hum Genet. 1998 Jul-Aug;6(4):376-82. doi: 10.1038/sj.ejhg.5200229.
6
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.与脊髓性肌萎缩同源物上严重疾病等位基因相关的广泛DNA缺失。
Ann Neurol. 1997 Jul;42(1):41-9. doi: 10.1002/ana.410420109.
7
Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.对具有单拷贝SMN1的脊髓性肌萎缩症患者进行基因内SMN1突变检测。
J Child Neurol. 2015 Apr;30(5):558-62. doi: 10.1177/0883073814521297. Epub 2014 Feb 20.
8
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.MORC2 突变会导致严重的脊髓性肌萎缩症表型、小脑萎缩和膈肌麻痹。
Brain. 2016 Dec;139(Pt 12):e70. doi: 10.1093/brain/aww252. Epub 2016 Oct 29.
9
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.局限于下肢的节段性脊髓性肌萎缩：阿曼首例病例。
Sultan Qaboos Univ Med J. 2017 Aug;17(3):e355-e357. doi: 10.18295/squmj.2017.17.03.018. Epub 2017 Oct 10.
10
Spinal muscular atrophy: molecular pathophysiology.脊髓性肌萎缩症：分子病理生理学
Curr Opin Neurol. 1999 Apr;12(2):137-42. doi: 10.1097/00019052-199904000-00002.

引用本文的文献

1
Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.“脊髓性肌萎缩症新生儿神经学简易检查（SMA NNE）”的开发，用于患有脊髓性肌萎缩症的新生儿的简短新生儿神经学检查。
Eur J Pediatr. 2025 Aug 19;184(9):562. doi: 10.1007/s00431-025-06382-4.
2
Early Intervention and Speed-to-Effect in Spinal Muscular Atrophy Type 1 Following Onasemnogene Abeparvovec Gene Replacement Therapy: Results of aPost-Hoc Analysis of Pooled Clinical Study Data.1型脊髓性肌萎缩症经onasemnogene abeparvovec基因替代疗法后的早期干预与起效速度：汇总临床研究数据的事后分析结果
Neurol Ther. 2025 Jul 7. doi: 10.1007/s40120-025-00791-1.
3
In utero therapy for spinal muscular atrophy: closer to clinical translation.
脊髓性肌萎缩症的宫内治疗：更接近临床转化。
Brain. 2025 Apr 7. doi: 10.1093/brain/awaf123.
4
What did we learn from new treatments in SMA? A narrative review.我们从脊髓性肌萎缩症的新疗法中学到了什么？一篇叙述性综述。
Acta Myol. 2025 Mar;44(1):28-32. doi: 10.36185/2532-1900-1043.
5
Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies.疾病修饰疗法下5q型脊髓性肌萎缩症中的脊柱侧弯发展情况
Eur Spine J. 2025 Feb;34(2):546-555. doi: 10.1007/s00586-024-08586-y. Epub 2024 Dec 31.
6
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era.脊髓性肌萎缩症的诊断沟通流程：治疗时代面临的新挑战的全景审视
Genet Med Open. 2023 Jul 5;1(1):100825. doi: 10.1016/j.gimo.2023.100825. eCollection 2023.
7
Feature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy.5q型脊髓性肌萎缩症脊柱侧弯预测的特征工程
J Cachexia Sarcopenia Muscle. 2025 Feb;16(1):e13599. doi: 10.1002/jcsm.13599. Epub 2024 Dec 5.
8
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.
9
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.犹他州脊髓性肌萎缩症新生儿筛查五年回顾：经验教训
Int J Neonatal Screen. 2024 Jul 22;10(3):54. doi: 10.3390/ijns10030054.
10
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.最佳实践中的脊髓性肌萎缩症最新进展：诊断考量建议
Neurol Clin Pract. 2024 Aug;14(4):e200310. doi: 10.1212/CPJ.0000000000200310. Epub 2024 May 24.