Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/BF00887824.pdf
Reference30 articles.
1. Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Molec Genet 2: 1397?1400
2. Ashizawa T, Dubel JR, Harati Y (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43: 2674?2678
3. Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, Jong P de, Jansen G, Anvret M, Riley B, Williamson R, Johnson K (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355: 547?548
4. Caughey JE, Myrianthopoulos NC (1963) Dystrophia myotonica and related disorders. Thomas, Springfield, Ill.
5. Censori B, Danni M, Del Pesce M, Provinciali L (1990) Neuropsychological profile in myotonic dystrophy. J Neurol 237: 251?256
Cited by 75 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. Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1;Computational and Structural Biotechnology Journal;2024-12
2. Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1;Human Molecular Genetics;2022-09-13
3. Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent;Human Molecular Genetics;2021-08-25
4. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20
5. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care;Orphanet Journal of Rare Diseases;2019-06-03
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