Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
Author:
Funder
National Institutes of Health
Publisher
Frontiers Media SA
Subject
Biochemistry, Genetics and Molecular Biology (miscellaneous),Molecular Biology,Biochemistry
Reference158 articles.
1. Accuracy of marker analysis, quantitative real-time polymerase chain reaction and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy;Alías;Genet. Test. Mol. Biomarkers,2011
2. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients;Amara;Eur. J. Paediatr. Neurol.,2012
3. Determination of SMN1 and SMN2 copy number using TaqMan technology;Anhuf;Hum. Mutat.,2003
4. Intrafamilial heterogeneity in hereditary motor neuron disease;Appelbaum;Neurology,1992
5. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy;Arkblad;Neuromuscul. Disord.,2006
Cited by 117 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy;Neuromuscular Disorders;2024-03
2. The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study;Frontiers in Public Health;2024-02-01
3. Molecular genetics of spinal muscular atrophy;Diagnostic Molecular Pathology;2024
4. Safety and efficacy of growth-friendly instrumentation for early-onset scoliosis in patients with spinal muscular atrophy type 1 in the disease-modifying treatment era;Journal of Children's Orthopaedics;2023-11-27
5. Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial;Neuromuscular Disorders;2023-08
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"全球学者库"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前全球学者库共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2023 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3