两个患有X连锁隐性遗传性痉挛性截瘫的家族。 - Suppr

Suppr

超能文献

Two kindreds with a sex-linked recessive form of spastic paraplegia.

作者信息

Thurmon T F, Walker B A, Scott C I, Abbott M H

出版信息

Birth Defects Orig Artic Ser. 1971 Feb;7(1):219-21.

PMID:5173365

Abstract

摘要

相似文献

Two kindreds with a sex-linked recessive form of spastic paraplegia.两个患有X连锁隐性遗传性痉挛性截瘫的家族。

Birth Defects Orig Artic Ser. 1971 Feb;7(1):219-21.

[Two siblings with spastic paraplegia, optic atrophy and peripheral neuropathy].[两名患有痉挛性截瘫、视神经萎缩和周围神经病变的兄弟姐妹]

Rinsho Shinkeigaku. 1982 Oct;22(10):901-8.

Two distinct types of autosomal dominant spastic paraplegia.

Birth Defects Orig Artic Ser. 1971 Feb;7(1):216-8.

[Complicated spastic paraplegia with sex-linked inheritance (report of a family)].

Acta Neurol (Napoli). 1977 Nov-Dec;32(6):746-56.

Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting.

Birth Defects Orig Artic Ser. 1971 Feb;7(1):211-3.

Familial spastic paraplegia.

Proc Aust Assoc Neurol. 1973;10(0):31-3.

[Gyrate atrophy with nystagmus and strabismus].[伴有眼球震颤和斜视的回旋状萎缩]

Klin Monbl Augenheilkd. 1970 Mar;156(3):377-90.

[Differential diagnosis of hereditary spastic spinal paralysis. Simultaneously a report on genetically independent type of recessive hereditary infantile spastic spinal paralysis].遗传性痉挛性截瘫的鉴别诊断。同时报告一种基因独立型隐性遗传性婴儿痉挛性截瘫

Nervenarzt. 1976 Nov;47(11):661-8.

Genetic approaches to the nosology of nervous system defects.神经系统缺陷疾病分类学的遗传学研究方法。

Birth Defects Orig Artic Ser. 1971 Feb;7(1):10-22.

Familial spastic paraparesis, optic atrophy, and dementia. Clinical observations of affected kindred.

N Y State J Med. 1976 May;76(5):756-8.

引用本文的文献

A family with sex linked optic atrophy : Ophthalmological and neurological aspects.一个患有性连锁视神经萎缩的家族：眼科和神经学方面

Doc Ophthalmol. 1974 Nov;37(2):307-26. doi: 10.1007/BF00147264.

Hereditary spastic paraparesis: a review of new developments.遗传性痉挛性截瘫：新进展综述

J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150.

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.遗传性“单纯”痉挛性截瘫：22个家系的临床与遗传学研究

J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871-83. doi: 10.1136/jnnp.44.10.871.

Manifesting heterozygosity in sex-linked spastic paraplegia?在X连锁痉挛性截瘫中表现为杂合性？

J Neurol Neurosurg Psychiatry. 1984 Mar;47(3):311-3. doi: 10.1136/jnnp.47.3.311.

Familial spastic paraplegia with Kallmann's syndrome.伴有卡尔曼综合征的家族性痉挛性截瘫

J Neurol Neurosurg Psychiatry. 1983 Jul;46(7):671-4. doi: 10.1136/jnnp.46.7.671.

Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.遗传性铁粒幼细胞贫血和共济失调：一种X连锁隐性疾病。

J Med Genet. 1985 Aug;22(4):267-73. doi: 10.1136/jmg.22.4.267.

Etiological heterogeneity in X-linked spastic paraplegia.X连锁痉挛性截瘫的病因异质性。

Am J Hum Genet. 1987 Nov;41(5):933-43.

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.利用DNA探针进行X连锁隐性痉挛性截瘫的连锁研究。

Hum Genet. 1986 Jul;73(3):264-6. doi: 10.1007/BF00401241.

Allan-Herndon syndrome. I. Clinical studies.艾伦 - 赫ndon 综合征。一、临床研究。

Am J Hum Genet. 1990 Sep;47(3):446-53.

X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.一个大家系中的X连锁隐性型单纯性痉挛性截瘫：与Xg无明显连锁关系。

J Med Genet. 1976 Jun;13(3):217-22. doi: 10.1136/jmg.13.3.217.

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