• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Machado-Joseph-Azorean disease in India.

作者信息

Bharucha N E, Bharucha E P, Bhabha S K

出版信息

Arch Neurol. 1986 Feb;43(2):142-4. doi: 10.1001/archneur.1986.00520020036014.

DOI:10.1001/archneur.1986.00520020036014
PMID:3947253
Abstract

Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described. We describe a family with clinical features similar to those of MJA disease; these are the first cases to be described in India. Further pathologic study is necessary to confirm the diagnosis in our cases. Meanwhile, further search for such cases in India should yield interesting genetic clues to the disease.

摘要

相似文献

1
Machado-Joseph-Azorean disease in India.
Arch Neurol. 1986 Feb;43(2):142-4. doi: 10.1001/archneur.1986.00520020036014.
2
Machado-Joseph disease: the vestibular presentation.
J Otolaryngol. 1986 Jun;15(3):184-8.
3
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family.马查多-约瑟夫病的临床诊断标准:一个非亚速尔群岛葡萄牙家庭的报告。
Neurology. 1980 Mar;30(3):319-22. doi: 10.1212/wnl.30.3.319.
4
Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.
Neurology. 1994 Jul;44(7):1298-301. doi: 10.1212/wnl.44.7.1298.
5
Machado-Joseph disease in a Sicilian-American family.一个西西里裔美国家庭中的马查多-约瑟夫病
J Neurogenet. 1986 May;3(3):177-82. doi: 10.3109/01677068609106847.
6
Machado-Joseph-Azorean disease. A ten-year study.马查多-约瑟夫-亚速尔群岛病。一项为期十年的研究。
Arch Neurol. 1984 Sep;41(9):921-5. doi: 10.1001/archneur.1984.04050200027013.
7
Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds.马查多-约瑟夫病:中国家系的临床、分子和代谢特征
Ann Neurol. 1997 Apr;41(4):446-52. doi: 10.1002/ana.410410407.
8
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.患有3型脊髓小脑共济失调(SCA)的美国家庭中的突变:SCA3与马查多-约瑟夫病等位。
Neurology. 1996 Jan;46(1):208-13. doi: 10.1212/wnl.46.1.208.
9
Machado-Joseph disease in an American-Italian family.一个美籍意大利家庭中的马查多-约瑟夫病
J Neurogenet. 1984 Apr;1(2):185-8. doi: 10.3109/01677068409107084.
10
Presumably Azorean disease in a presumably non-Portuguese family.一个推测为非葡萄牙裔家庭中的亚速尔群岛病(情况)推测。
Neurology. 1980 Oct;30(10):1084-9. doi: 10.1212/wnl.30.10.1084.

引用本文的文献

1
Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.印度人群罕见神经退行性疾病的疾病反卷积范式:来自小脑共济失调研究的见解
J Genet. 2018 Jul;97(3):589-609.
2
The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.CAG/聚谷氨酰胺重复序列疾病:基因产物与分子发病机制
Brain Pathol. 1997 Jul;7(3):927-42. doi: 10.1111/j.1750-3639.1997.tb00894.x.
3
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.
一种独立于CAG重复序列长度的家族因素影响马查多-约瑟夫病的发病年龄。
Am J Hum Genet. 1996 Jul;59(1):119-27.
4
Delirium associated with Joseph disease.与约瑟夫病相关的谵妄
J Neurol Neurosurg Psychiatry. 1993 Nov;56(11):1207-12. doi: 10.1136/jnnp.56.11.1207.
5
Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.马查多-约瑟夫病不是脊髓小脑共济失调2型位点的一个等位基因。
Hum Genet. 1994 Mar;93(3):335-8. doi: 10.1007/BF00212034.
6
Regional cerebral blood flow measured with N-isopropyl-p-[123I]iodoamphetamine single-photon emission tomography in patients with Joseph disease.
Eur J Nucl Med. 1994 Jul;21(7):615-20. doi: 10.1007/BF00285583.
7
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.马查多-约瑟夫病定位于与3型脊髓小脑共济失调基因座相同的14号染色体区域。
J Med Genet. 1995 Jan;32(1):25-31. doi: 10.1136/jmg.32.1.25.
8
Characteristics of oculomotor disorders of a family with Joseph's disease.患有约瑟夫病的一个家族的眼球运动障碍特征。
J Neurol. 1990 Nov;237(7):393-8. doi: 10.1007/BF00314728.