Screening for SH3TC2 variants in Charcot–Marie–Tooth disease in a cohort of Chinese patients
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-021-01605-5.pdf
Reference23 articles.
1. Sun B, Chen Z, Ling L et al (2017) Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients [J]. J Peripher Nerv Syst 22(1):13–18. https://doi.org/10.1111/jns.12195 (PMID:27862672)
2. Sun B, Chen ZH, Ling L et al (2016) Mutation analysis of gap junction protein Beta 1 and genotype-phenotype correlation in X-linked Charcot-Marie-Tooth disease in Chinese patients [J]. Chin Med J 129(9):1011–1016. https://doi.org/10.4103/0366-6999.180511 (PMID:27098783)
3. Szigeti K, Lupski JR (2009) Charcot-Marie-Tooth disease. Eur J Hum Genet 17(6):703–710. https://doi.org/10.1038/ejhg.2009.31
4. Pareyson D (1999) Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve 22(11):1498–1509. https://doi.org/10.1002/(sici)1097-4598(199911)22:11%3c1498::aid-mus4%3e3.0.co;2-9
5. Gentile L, Russo M, Fabrizi GM et al (2020) Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Neurol Sci 41(5):1239–1243. https://doi.org/10.1007/s10072-019-04219-1
Cited by 5 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. Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease;Frontiers in Genetics;2024-06-06
2. Effects of genetic variation on the structure of RNA and protein;PROTEOMICS;2024-01-10
3. Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders;Journal of Neurodevelopmental Disorders;2023-04-29
4. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history;Brain;2023-03-22
5. Pan-Cancer Analysis Reveals SH3TC2 as an Oncogene for Colorectal Cancer and Promotes Tumorigenesis via the MAPK Pathway;Cancers;2022-07-31
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