Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.
作者信息
Hall Devin, Stong Nicholas, Lippa Natalie, Pitman Michael J, Pullman Seth L, Levy Oren A
机构信息
Department of Neurology Columbia University Medical Center New York NY.
Institute of Genomic Medicine Columbia University Medical Center New York NY.
出版信息
Mov Disord Clin Pract. 2018 Mar 2;5(2):221-222. doi: 10.1002/mdc3.12580. eCollection 2018 Mar-Apr.
Abstract
摘要
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本文引用的文献
1
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.痉挛性截瘫 7 型的基因型-表型相关性：一项大型荷兰队列研究。
Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.
2
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.对痉挛性截瘫患者的 SPG7 突变筛查支持某些突变的显性效应，以及 p.A510V 的致病性作用。
Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21.
3
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.遗传性痉挛性截瘫：临床特征与发病机制
Lancet Neurol. 2008 Dec;7(12):1127-38. doi: 10.1016/S1474-4422(08)70258-8.
4
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.一大群遗传性痉挛性截瘫患者中SPG7突变的临床、遗传和生化特征分析
Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682.
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