Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

Published:2006-10-09 Issue:6 Volume:70 Page:490-495
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Ivanova N,Löfgren A,Tournev I,Rousev R,Andreeva A,Jordanova A,Georgieva V,Deconinck T,Timmerman V,Kremensky I,De Jonghe P,Mitev V

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00705.x/fullpdf

Reference14 articles.

1. Spastin, a novel AAA protein, is altered in the most frequent form of autosomal-dominant spastic paraplegia;Hazan;Nat Genet,1999

2. Novel spastin mutations and their expression analysis in two Italian families;Molon;Eur J Hum Genet,2003

3. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing;Evans;J Cell Biol,2005

4. Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin);Schickel;Neurology,2006

5. Hereditary spastic paraparesis: a review of new developments;McDermott;J Neurol Neurosurg Psychiatry,2000

Cited by 6 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. Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients;Journal of Neurology;2019-11-19

2. ExonImpact: Prioritizing Pathogenic Alternative Splicing Events;Human Mutation;2016-10-03

3. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands;Journal of the Neurological Sciences;2016-05

4. Autosomal Dominant Spastic Paraplegias;JAMA Neurology;2013-04-01

5. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males;Journal of the Neurological Sciences;2011-07

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