Suppr超能文献

从解剖临床研究到分子生物学的遗传性神经系统疾病

Hereditary disorders of the nervous system from anatomo-clinical studies to molecular biology.

作者信息

Martin J J

机构信息

Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium.

出版信息

Acta Neurol Belg. 1996 Sep;96(3):240-6.

PMID:8886111
Abstract

Hereditary disorders of the nervous system have been defined in the past by their main clinical and neuropathological features. The genetic approach has evolved from the traditional collection of pedigrees to molecular biology techniques which nowadays identify the responsible genes, recognize their defects and describe the gene products. We illustrate these changes by a few examples from the group of spinocerebellar atrophies, hereditary motor and sensory neuropathies and Alzheimer's disease. Modern neurology has found in molecular biology an extremely powerful tool to study the hereditary disorders of the nervous system.

摘要

过去,神经系统遗传性疾病是根据其主要临床和神经病理学特征来定义的。遗传学方法已从传统的系谱收集发展到分子生物学技术,如今这些技术能够识别致病基因、确定其缺陷并描述基因产物。我们通过脊髓小脑萎缩症、遗传性运动和感觉神经病以及阿尔茨海默病等组中的几个例子来说明这些变化。现代神经病学发现分子生物学是研究神经系统遗传性疾病的极其强大的工具。

相似文献

2
[Actual nosology of polyneuropathies in childhood].
Rev Neurol. 1996 Nov;24(135):1382-4.
3
The dominantly inherited motor and sensory neuropathies: clinical and molecular advances.
Muscle Nerve. 2006 May;33(5):589-97. doi: 10.1002/mus.20477.
4
[Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].
Rev Neurol (Paris). 2011 Dec;167(12):948-50. doi: 10.1016/j.neurol.2011.05.006. Epub 2011 Nov 17.
5
[Molecular genetics of inherited neuropathies].
Rinsho Shinkeigaku. 2006 Jan;46(1):1-18.
7
Molecular basis of hereditary neuropathies.
Phys Med Rehabil Clin N Am. 2001 May;12(2):277-91.
9
Hereditary ataxia.
Neurol Clin. 1989 Feb;7(1):25-36.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验