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The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.帕金森病队列中针对葡萄糖脑苷脂酶突变的适当基因分型策略的必要性。
Arch Neurol. 2008 Jun;65(6):850-1; author reply 851. doi: 10.1001/archneur.65.6.850.
2
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.对来自葡萄牙的帕金森病患者进行葡萄糖脑苷脂酶突变的全面筛查。
Neurobiol Aging. 2009 Sep;30(9):1515-7. doi: 10.1016/j.neurobiolaging.2007.11.016. Epub 2007 Dec 21.
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Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.中国患者中葡萄糖脑苷脂酶突变与帕金森病风险
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Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.伴有和不伴有GBA突变的帕金森病中的葡萄糖脑苷脂酶活性
Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.
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Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.葡萄糖脑苷脂酶基因突变与帕金森病：表型-基因型相关性
Neurology. 2005 Nov 8;65(9):1460-1. doi: 10.1212/01.wnl.0000176987.47875.28. Epub 2005 Sep 7.
6
The relationship between glucocerebrosidase mutations and Parkinson disease.葡萄糖脑苷脂酶突变与帕金森病之间的关系。
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Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.葡萄糖脑苷脂酶突变与帕金森病发病机制。
Ann Med. 2013 Dec;45(8):511-21. doi: 10.3109/07853890.2013.849003.
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Targeting glucocerebrosidase: Reduced enzymatic activity and Parkinson's disease.靶向葡萄糖脑苷脂酶：酶活性降低与帕金森病
Mov Disord. 2015 Oct;30(12):1620. doi: 10.1002/mds.26379. Epub 2015 Aug 11.
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Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.葡萄糖脑苷脂酶基因突变与早发性帕金森病相关。
Neurology. 2007 Sep 18;69(12):1270-7. doi: 10.1212/01.wnl.0000276989.17578.02.
10
β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.β-葡萄糖脑苷脂酶基因突变在两组希腊散发性帕金森病患者中。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):149-52. doi: 10.1016/j.ymgme.2011.06.015. Epub 2011 Jun 24.

引用本文的文献

1
β-Glucocerebrosidase activity in -linked Parkinson disease: The type of mutation matters.- 连接型帕金森病中β-葡糖脑苷脂酶活性：突变类型很重要。
Neurology. 2020 Aug 11;95(6):e685-e696. doi: 10.1212/WNL.0000000000009989. Epub 2020 Jun 15.
2
Integrated Genetic Analysis of Racial Differences of Common Variants in Parkinson's Disease: A Meta-Analysis.帕金森病常见变异种族差异的综合遗传分析：一项荟萃分析。
Front Mol Neurosci. 2018 Feb 15;11:43. doi: 10.3389/fnmol.2018.00043. eCollection 2018.
3
The association between ß-glucocerebrosidase mutations and parkinsonism.ß-葡糖脑苷脂酶突变与帕金森病的关联。
Curr Neurol Neurosci Rep. 2013 Aug;13(8):368. doi: 10.1007/s11910-013-0368-x.
4
Parkinsonism associated with glucocerebrosidase mutation.帕金森病与葡萄糖脑苷脂酶突变相关。
J Clin Neurol. 2011 Jun;7(2):99-101. doi: 10.3988/jcn.2011.7.2.99. Epub 2011 Jun 28.
5
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.早发性帕金森病已知突变的频率：对遗传咨询的意义：早发性帕金森病风险联盟研究
Arch Neurol. 2010 Sep;67(9):1116-22. doi: 10.1001/archneurol.2010.194.
6
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.葡萄糖脑苷脂酶突变在帕金森病和路易体障碍中的作用。
Curr Neurol Neurosci Rep. 2010 May;10(3):190-8. doi: 10.1007/s11910-010-0102-x.
7
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.葡糖脑苷脂酶突变p.L444P和p.N370S与波兰患者的多系统萎缩、进行性核上性麻痹和皮质基底节变性无关。
J Neurol. 2010 Mar;257(3):459-60. doi: 10.1007/s00415-009-5363-4. Epub 2009 Nov 1.

本文引用的文献

1
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.葡萄糖脑苷脂酶基因突变与早发性帕金森病相关。
Neurology. 2007 Sep 18;69(12):1270-7. doi: 10.1212/01.wnl.0000276989.17578.02.
2
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.葡萄糖脑苷脂酶基因突变是台湾人帕金森病早发的一个风险因素。
J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):977-9. doi: 10.1136/jnnp.2006.105940.
3
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.中国患者中葡萄糖脑苷脂酶突变与帕金森病风险
Arch Neurol. 2007 Jul;64(7):1056-8. doi: 10.1001/archneur.64.7.1056.
4
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.来自中国台湾地区散发性帕金森病患者的葡萄糖脑苷脂酶突变
Mol Genet Metab. 2007 Jun;91(2):195-200. doi: 10.1016/j.ymgme.2007.03.004. Epub 2007 Apr 25.
5
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.台湾戈谢病患者的突变分析：RecNciI和L444P突变的高发生率
Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. doi: 10.1016/j.bcmd.2006.02.001. Epub 2006 Mar 20.
6
Glucocerebrosidase mutations in subjects with parkinsonism.帕金森综合征患者中的葡萄糖脑苷脂酶突变
Mol Genet Metab. 2004 Jan;81(1):70-3. doi: 10.1016/j.ymgme.2003.11.004.

The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.

作者信息

Gutti Usha, Fung Hon-Chung, Hruska Kathleen S, Lamarca Mary E, Chen Chiung-Mei, Wu Yih-Ru, Sidransky Ellen

出版信息

Arch Neurol. 2008 Jun;65(6):850-1; author reply 851. doi: 10.1001/archneur.65.6.850.

DOI:10.1001/archneur.65.6.850
PMID:18541817
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2590936/
Abstract
摘要