Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://www.springerlink.com/index/pdf/10.1007/s12311-009-0130-8
Reference21 articles.
1. Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC et al (2004) Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 36:225–227
2. Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C et al (2004) Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 127:759–767
3. Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ et al (2005) Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 57:408–414
4. Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6:245–257
5. Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Sacca F, Grieco GS et al (2006) Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology 66:1207–1210
Cited by 18 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. Role of senataxin in R-loop-mediated neurodegeneration;Brain Communications;2024
2. Clinical features of ataxia with oculoapraxia type 2 in China;2023-06-08
3. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism;The Cerebellum;2023-05-08
4. A novel mouse allele of the DNA/RNA helicase senataxin (Setxspcar3) causing meiotic arrest of spermatocytes and male infertility;2023-04-13
5. Senataxin: A New Guardian of the Female Germline Important for Delaying Ovarian Aging;Frontiers in Genetics;2021-04-29
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