伴有先天性瞳孔缩小的遗传性痉挛性共济失调：一个家族中的四例病例 - Suppr

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超能文献

Hereditary spastic ataxia with congenital miosis: four cases in one family.

作者信息

Dick D J, Newman P K, Cleland P G

出版信息

Br J Ophthalmol. 1983 Feb;67(2):97-101. doi: 10.1136/bjo.67.2.97.

DOI:10.1136/bjo.67.2.97

PMID:6821680

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1039974/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d44/1039974/2d5c919a504a/brjopthal00158-0027-a.jpg

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本文引用的文献

Hereditary spastic paraplegia.遗传性痉挛性截瘫

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Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-luysian degeneration.球后视神经炎型遗传性共济失调伴视神经萎缩，以及隐匿性苍白球-路易体变性。

Brain. 1949 Sep;72(3):340-63, illust. doi: 10.1093/brain/72.3.340.

[Spasmodic familial paraplegia with cerebellar disorders and vertical paralysis of the eyes; 2 brothers].[伴有小脑疾病和眼球垂直麻痹的痉挛性家族性截瘫；2名兄弟]

Rev Neurol (Paris). 1951 Feb;84(2):182-5.

A sex-linked recessive form of spastic paraplegia.一种X连锁隐性形式的痉挛性截瘫。

Am J Hum Genet. 1962 Mar;14(1):83-94.

Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.伴有肌萎缩、智力发育迟缓及中心性视网膜变性的家族性痉挛性截瘫

Arch Neurol. 1959 Aug;1:133-40. doi: 10.1001/archneur.1959.03840020007002.

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.兄弟姐妹中的无虹膜、小脑共济失调和智力发育不全

Arch Ophthalmol. 1965 Mar;73:338-41. doi: 10.1001/archopht.1965.00970030340008.

PRESUMPTIVE X-LINKED INTERMEDIATE TRANSMISSION OF RETINAL DEGENERATIONS. VARIATIONS AND COINCIDENTAL OCCURRENCE WITH ATAXIA IN A LARGE FAMILY.视网膜变性的推定X连锁中间传递。一个大家庭中与共济失调相关的变异及巧合发生情况。

Arch Ophthalmol. 1963 Aug;70:143-9. doi: 10.1001/archopht.1963.00960050145002.

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Neurology. 1962 Feb;12:124-32. doi: 10.1212/wnl.12.2.124.

Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia.

Arch Ophthalmol. 1961 Aug;66:247-59. doi: 10.1001/archopht.1961.00960010249017.

On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.论家族性共济失调、神经性肌萎缩及其与进行性眼外肌麻痹的关联。

Brain. 1958 Dec;81(4):556-66. doi: 10.1093/brain/81.4.556.

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