Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Published:2013-09-11 Issue:10 Volume:136 Page:3085-3095
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Thomas R. H.,Chung S.-K.,Wood S. E.,Cushion T. D.,Drew C. J. G.,Hammond C. L.,Vanbellinghen J.-F.,Mullins J. G. L.,Rees M. I.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/136/10/3085/13795533/awt207.pdf

Reference51 articles.

1. Novel mutation in GLRB in a large family with hereditary hyperekplexia

2. STARTLE DISEASE OR HYPEREKPLEXIA FURTHER DELINEATION OF THE SYNDROME

3. Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation

4. Startle syndromes

5. A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndrome

Cited by 72 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. Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review;Journal of Child Neurology;2024-09-02

2. Role of palmitoylation on the neuronal glycine transporter GlyT2;Journal of Neurochemistry;2024-07-20

3. Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution;Cureus;2024-06-05

4. Hyperekplexia: A Single-Center Experience;Journal of Child Neurology;2024-06

5. Myoclonus;Movement Disorders Phenomenology;2024

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