Clinical and biological progress over 50 years in Rett syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology
Link
http://www.nature.com/articles/nrneurol.2016.186.pdf
Reference222 articles.
1. Rett, A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien. Med. Wochenschr. 116, 723–726 (in German) (1966).
2. Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14, 471–479 (1983). The initial clinical description of 35 cases of Rett syndrome in the English-speaking literature.
3. Fehr, S., Downs, J., Bebbington, A. & Leonard, H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome. Am. J. Med. Genet. A 152A, 2535–2542 (2010).
4. Hagberg, B., Goutières, F., Hanefeld, F., Rett, A. & Wilson, J. Rett syndrome: criteria for inclusion and exclusion. Brain Dev. 7, 372–373 (1985).
5. [No authors listed.] Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann. Neurol. 23, 425–428 (1988).
Cited by 161 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. Respiratory Disorders in Rett Syndrome;Current Respiratory Medicine Reviews;2025-02
2. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels;Human Molecular Genetics;2024-09-15
3. Scoping Review of Communication Abilities of Children with Rett Syndrome in Daily Routine: A Communication Partners’ Perspectives;Advances in Neurodevelopmental Disorders;2024-06-19
4. The sleep problems in individuals with Rett syndrome and their caregivers;Autism;2024-06-09
5. Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients;Journal of Autism and Developmental Disorders;2024-05-25
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