Suppr超能文献

Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.

作者信息

Hiel J A, Weemaes C M, Smeets D F, Van de Vlasakker C J, Horstink M W

机构信息

Department of Neurology, University Hospital Nijmegen, The Netherlands.

出版信息

Mov Disord. 1994 Jul;9(4):460-2. doi: 10.1002/mds.870090415.

Abstract

Two young adult brothers presented with a 5- to 6-Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased alpha-feto-protein levels indicated the presence of ataxia telangiectasia (AT). Resting tremor as a predominating symptom in AT is uncommon and to our knowledge has not been described previously.

摘要

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验