Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/122/4/649/17873318/1220649.pdf
Reference22 articles.
1. Arts WF, Bethlem J, Volkers WS. Further investigations on benign myopathy with autosomal dominant inheritance. J Neurol1978; 217: 201–6.
2. Bethlem J, van Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance: a report on three pedigrees. Brain1976; 99: 91–100.
3. Boers JM. Een congenitale myopathie met contracturen [dissertation]. Amsterdam: Univ. of Amsterdam; 1984.
4. Bonaldo P, Russo V, Bucciotti F, Doliana R, Colombatti A. Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues. Biochemistry1990; 29: 1245–54.
5. Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve1981; 4: 186–97.
Cited by 102 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. Pregnancy in a woman with extreme short stature and low body weight secondary to a collagen VI-related muscular dystrophy;Obstetric Medicine;2023-12-21
2. Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review;International Journal of Molecular Sciences;2023-08-31
3. New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients;International Journal of Molecular Sciences;2023-08-05
4. Collagen VI in the Musculoskeletal System;International Journal of Molecular Sciences;2023-03-07
5. Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course;Journal of Pediatric Orthopaedics;2022-10-26
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