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A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

作者信息

Masciullo Marcella, Modoni Anna, Fattori Fabiana, Santoro Massimo, Denora Paola S, Tonali Pietro, Santorelli Filippo M, Silvestri Gabriella

出版信息

J Neurol. 2008 Sep;255(9):1429-31. doi: 10.1007/s00415-008-0936-1. Epub 2008 Jul 11.

DOI:10.1007/s00415-008-0936-1
PMID:18604465
Abstract
摘要

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1
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J Neurol. 2008 Sep;255(9):1429-31. doi: 10.1007/s00415-008-0936-1. Epub 2008 Jul 11.
2
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.夏尔沃-萨格奈型常染色体隐性痉挛性共济失调中的新型SACS突变。
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4
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.魁北克省沙勒沃伊-萨格奈常染色体隐性痉挛性共济失调(ARSACS):SACS基因中的新型复合杂合突变
J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19.
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Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.夏尔沃-萨格奈常染色体隐性痉挛性共济失调中SACS基因的新型复合杂合突变
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Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.对一个患有隐性夏勒沃魁-萨格奈痉挛性共济失调的西班牙家庭进行的神经生理学研究。
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.魁北克-萨格奈常染色体隐性痉挛性共济失调:SACS基因无义突变的复合杂合子。
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[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].[来自一个患有沙勒沃伊-萨格奈痉挛性共济失调家系的两名患者中SACS基因复合杂合突变的鉴定]
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引用本文的文献

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Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus.二代测序数据的生物信息学分析确定了与2型糖尿病相关的分子生物标志物。
Clin Med Insights Endocrinol Diabetes. 2023 Feb 20;16:11795514231155635. doi: 10.1177/11795514231155635. eCollection 2023.
2
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.常染色体隐性遗传性痉挛性共济失调(CHARLEVOIX-SAGUENAY 型,ARSACS)的遗传学及 Sacsin 在神经退行性变中的作用。
Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552.
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本文引用的文献

1
Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease.核内包涵体病小鼠模型中的内脏神经病变与肠道假性梗阻
Gastroenterology. 2007 Dec;133(6):1971-8. doi: 10.1053/j.gastro.2007.08.043. Epub 2007 Aug 21.
2
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.编码spatacsin的SPG11基因突变是导致伴有薄胼胝体的痉挛性截瘫的主要原因。
Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18.
3
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
全外显子组测序鉴定的一种新型纯合 SACS 突变——所有已发表病例的基因型表型相关性。
J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7.
4
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.SACS 突变的比较分析和功能定位揭示了 sacsin 重复结构的新见解。
Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.
常染色体隐性遗传性小脑共济失调的临床特征与分子遗传学
Lancet Neurol. 2007 Mar;6(3):245-57. doi: 10.1016/S1474-4422(07)70054-6.
4
A phenotype without spasticity in sacsin-related ataxia.与Sacsin相关的共济失调中无痉挛的表型。
Neurology. 2005 Jun 28;64(12):2129-31. doi: 10.1212/01.WNL.0000166031.91514.B3.
5
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.夏尔沃-萨格奈型常染色体隐性痉挛性共济失调中的新型SACS突变。
Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77.
6
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.突尼斯与Sacsin相关的常染色体隐性共济失调的表型特征和基因研究结果
Arch Neurol. 2003 Jul;60(7):982-8. doi: 10.1001/archneur.60.7.982.
7
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.ARSACS是魁北克省东北部常见的一种痉挛性共济失调,由一个编码11.5kb开放阅读框的新基因突变引起。
Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769.
8
Exclusion of linkage between RET and neuronal intestinal dysplasia type B.
Am J Med Genet. 1996 Mar 15;62(2):195-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2-J.
9
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.
Am J Hum Genet. 1996 Apr;58(4):743-8.
10
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).关于夏尔沃 - 萨格奈常染色体隐性痉挛性共济失调(ARSACS)的临床和分子遗传学研究。
Adv Neurol. 1993;61:97-103.