Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb04291.x/fullpdf
Reference16 articles.
1. Studies in the neuronal ceroid lipofuscinosis;Zeman;J Neuropathol Exp Neurol,1974
2. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes;Mitchison;Am J Hum Genet,1995
3. Fine structure of the lipid bodies in juvenile amaurotic idiocy;Zeman;Acta Neuropath,1963
4. ELECTRON MICROSCOPIC OBSERVATIONS IN BATTEN'S DISEASE
5. Variability in the clinical and pathological finding in the neuronal ceroid lipofuscinoses: review of data and observations;Wisniewski;Am J Med Genet,1992
Cited by 26 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. Cerliponase alfa for CLN2 disease, a promising therapy;Expert Opinion on Orphan Drugs;2020-11-01
2. Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity;Clinica Chimica Acta;2020-08
3. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project;Italian Journal of Pediatrics;2020-07-06
4. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study;The Lancet Child & Adolescent Health;2018-08
5. Management Strategies for CLN2 Disease;Pediatric Neurology;2017-04
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