Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome

Published:2007-07 Issue:4 Volume:11 Page:235-239
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Voutoufianakis S.,Psoni S.,Vorgia P.,Tsekoura F.,Kekou K.,Traeger-Synodinos J.,Kitsiou S.,Kanavakis E.,Fryssira H.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. International SMA consortium meeting, 26–28 June 1992, Bonn, Germany;Munsat;Neuromuscular Disord,1992

2. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3;Brzustowicz;Nature,1990

3. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q;Melki;Nature,1990

4. Identification and characterization of spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

5. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy;Roy;Cell,1995

Cited by 5 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. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2015-11-23

2. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders;Brain and Development;2012-06

3. Genetic Counseling: Preconception, Prenatal and Perinatal;Genetic Disorders and the Fetus;2010-09-24

4. A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder;European Journal of Paediatric Neurology;2010-03

5. Neurofibromatosis 1 Associated With Spinal Muscular Atrophy;Pediatric Neurology;2009-02

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