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HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.

作者信息

Hewamadduma C A A, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott C J, Shaw P J

机构信息

Academic Neurology Unit, Medical School, Beech Hill Road, University of Sheffield, S10 2RX, UK.

出版信息

Neurology. 2008 May 6;70(19):1717-8. doi: 10.1212/01.wnl.0000311395.31081.70.

DOI:10.1212/01.wnl.0000311395.31081.70
PMID:18458233
Abstract
摘要

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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.德国常染色体显性遗传性痉挛性截瘫患者痉挛蛋白基因(SPG4)的突变分析
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A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.一个新的剪接突变(c.870+3A>G)在 SPG4 中与遗传性痉挛性截瘫的一个韩国家族有关。
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Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.与SPG4位点相关的常染色体显性(AD)纯合性痉挛性截瘫(HSP)在一个大家系中几乎只影响男性。
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Movement disorders: Are umbrella terms for rare genetic diseases still useful?运动障碍:罕见遗传病的统称仍然有用吗?
Nat Rev Neurol. 2016 Jun;12(6):321-2. doi: 10.1038/nrneurol.2016.50. Epub 2016 Apr 15.
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Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.
新型 SPAST 缺失及 DPY30 表达降低与痉挛性截瘫 4 型家系相关。
BMC Med Genet. 2014 Apr 1;15:39. doi: 10.1186/1471-2350-15-39.
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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.三个遗传性痉挛性截瘫患者中外显子最后区域的 Alu 特异微同源介导缺失。
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Genetics of motor neuron disorders: new insights into pathogenic mechanisms.运动神经元疾病的遗传学:对致病机制的新见解
Nat Rev Genet. 2009 Nov;10(11):769-82. doi: 10.1038/nrg2680. Epub 2009 Oct 13.
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).新的家系和新突变扩展了REEP1相关遗传性痉挛性截瘫(HSP)的表型。
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Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15.