Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4939-8691-0_22
Reference34 articles.
1. Gros-Louis F, Dupré N, Dion P et al (2007) Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 39:80–85
2. Noreau A, Bourassa CV, Szuto A et al (2013) SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol 70:1296–1231
3. Synofzik M, Smets K, Mallaret M et al (2016) SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain 2016(139):1378–1393
4. Mademan I, Harmuth F, Giordano I et al (2016) Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. Brain 139:e46
5. Attali R, Warwar N, Israel A et al (2009) Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 18:3462–3469
Cited by 7 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. Diagnostic accuracy of ESR1 mutation detection by cell-free DNA in breast cancer: a systematic review and meta-analysis of diagnostic test accuracy;BMC Cancer;2024-07-28
2. Integrated biomarker responses: Unveiling insights through serum biochemistry, oxidative stress, genotoxicity and histopathology;Biomarkers in Environmental and Human Health Biomonitoring;2024
3. Importance of quality control in sample preparation workflow of forensic degraded samples for massively parallel sequencing (MPS);Journal of bioanthropology;2023-11-30
4. Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations;Molecular Neurobiology;2023-08-19
5. Clinical manifestations and diagnosis of COVID-19 in children;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-06-08
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
"同舟云学术"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，当前同舟云学术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 © 2019-2024 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