Congenital Myopathies: An Update-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Congenital Myopathies: An Update

Published:2012-03-04 Issue:2 Volume:12 Page:165-174
ISSN:1528-4042
Container-title:Current Neurology and Neuroscience Reports
language:en
Short-container-title:Curr Neurol Neurosci Rep

Author:

Nance Jessica R.,Dowling James J.,Gibbs Elizabeth M.,Bönnemann Carsten G.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Neuroscience

Link

http://link.springer.com/content/pdf/10.1007/s11910-012-0255-x.pdf

Reference106 articles.

1. Gonatas NK. The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z-discs. J Neuropathol Exp Neurol. 1966;25:409–21.

2. Goebel HH, Warlo I. Nemaline myopathy with intranuclear rods–intranuclear rod myopathy. Neuromuscul Disord. 1997;7:13–9.

3. Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999;23:208–12.

4. Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA. 1999;96:2305–10.

5. Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995;9:75–9.

Cited by 103 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. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report;Genes;2024-02-05

2. Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature;Genes;2023-06-28

3. Fenotipo de miopatía congénita central core autosómica dominante con alteraciones del gen RYR1. A propósito de un caso clínico;Acta Pediátrica de México;2023-02-13

4. Moebius Syndrome: An Updated Review of Literature;Child Neurology Open;2023-01

5. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model;JCI Insight;2022-08-08

同舟云学术

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