脑干受累于Leber遗传性视神经病变：与线粒体DNA 14484突变的关联 - Suppr

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超能文献

Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.

作者信息

Funalot B, Ranoux D, Mas J L, Garcia C, Bonnefont J P

出版信息

J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):533-4. doi: 10.1136/jnnp.61.5.533.

DOI:10.1136/jnnp.61.5.533

PMID:8937358

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1074061/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55d0/1074061/5f2eff013ba7/jnnpsyc00011-0103-a.jpg

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Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.脑干受累于Leber遗传性视神经病变：与线粒体DNA 14484突变的关联

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Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.莱伯遗传性视神经病变家系个体的听觉功能。

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Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathy.一例莱伯遗传性视神经病变患者的周围神经轴突变性。

J Neuroophthalmol. 2011 Mar;31(1):6-11. doi: 10.1097/WNO.0b013e3181fab1b4.

The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression?

J Inherit Metab Dis. 1999 Aug;22(6):760-1. doi: 10.1023/a:1005520922737.

本文引用的文献

Central nervous system involvement in Leber's optic neuropathy.

J Neurol. 1993;240(4):251-3. doi: 10.1007/BF00818714.

Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).Leber遗传性视神经病变（LHON）分子遗传学诊断中的陷阱。

Am J Hum Genet. 1993 Oct;53(4):916-20.

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.由致病性线粒体DNA突变的存在所定义的Leber遗传性视神经病变的临床特征。

Brain. 1995 Apr;118 ( Pt 2):319-37. doi: 10.1093/brain/118.2.319.

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.Leber遗传性视神经病变：线粒体ND1基因受累及基因内抑制突变的证据。

Am J Hum Genet. 1991 May;48(5):935-42.

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