Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015180.pdf
Reference37 articles.
1. Benson MD : Pathogenesis of transthyretin amyloidosis. Amyloid 2012; 19 (Suppl 1): 14–15.
2. Andrade C : A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952; 75: 408–427.
3. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O : Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993; 43: 288–294.
4. Sousa A, Coelho T, Barros J, Sequeiros J : Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995; 60: 512–521.
5. Ikeda S, Nakazato M, Ando Y, Sobue G : Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002; 58: 1001–1007.
Cited by 39 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. Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis;BMC Research Notes;2023-10-02
2. Sex differences in neuromuscular disorders;Mechanisms of Ageing and Development;2023-04
3. Update on Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis;Current Heart Failure Reports;2022-08-05
4. Adipokine Retinol Binding Protein 4 and Cardiovascular Diseases;Frontiers in Physiology;2022-03-02
5. Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis;Neurological Research and Practice;2021-11-01
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