Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials
Author:
Funder
Reverse Rett
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0873-8.pdf
Reference144 articles.
1. Baguley IJ. The excitatory:inhibitory ratio model (EIR model): an integrative explanation of acute autonomic overactivity syndromes. Med Hypotheses. 2008;70:26–35.
2. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001;68(3):598–605.
3. Lefcort F, Mergy M, Ohlen SB, Ueki Y, George L. Animal and cellular models of familial dysautonomia. Clin Auton Res. 2017;27(4):235–43.
4. Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, et al. Microdeletions of ELP4 are associated with language impairment, autism Spectrum disorder, and mental retardation. Hum Mutat. 2015;36(9):842–50.
5. Gkampeta A, Fidani L, Clarimón J, Kalinderi K, Katopodi T, et al. Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population. Epilepsy Res. 2014;108(10):1734–9.
Cited by 24 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. Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders—Implications for Individuals with Rett Syndrome: A Systematic Review;International Journal of Molecular Sciences;2023-05-19
2. Exploring gastrointestinal health in MECP2 duplication syndrome;Neurogastroenterology & Motility;2023-04-30
3. Inconsolability in a Nonverbal Adolescent;Clinical Pediatrics;2023-04-29
4. Genotype and sleep independently predict mental health in Rett syndrome: an observational study;Journal of Medical Genetics;2023-04-13
5. Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis;Frontiers in Neuroscience;2023-03-20
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