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Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.

作者信息

Jamrozik Zygmunt, Lugowska Agnieszka, Slawek Jaroslaw, Kwiecinski Hubert

出版信息

J Neurol. 2010 Mar;257(3):459-60. doi: 10.1007/s00415-009-5363-4. Epub 2009 Nov 1.

DOI:10.1007/s00415-009-5363-4
PMID:19882201
Abstract
摘要

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1
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.
2
Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.多系统萎缩、进行性核上性麻痹和皮质基底节变性患者的PITX3基因分析。
Ann Clin Lab Sci. 2013 Spring;43(2):151-3.
3
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.在意大利 PSP、MSA 和 DLB 患者中进行 DCTN1 突变分析。
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Glucocerebrosidase mutations in primary parkinsonism.原发性帕金森病中的葡萄糖脑苷脂酶突变
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Arch Neurol. 2009 May;66(5):578-83. doi: 10.1001/archneurol.2009.54.
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Mov Disord. 2012 Mar;27(3):393-9. doi: 10.1002/mds.24045. Epub 2011 Dec 15.
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Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.常染色体隐性疾病携带者的神经退行性疾病风险
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GBA-Associated Parkinson's Disease and Other Synucleinopathies.GBA 相关性帕金森病及其他突触核蛋白病。

本文引用的文献

1
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.108例经神经病理学确诊的多系统萎缩病例中的葡萄糖脑苷脂酶突变
Neurology. 2009 Mar 31;72(13):1185-6. doi: 10.1212/01.wnl.0000345356.40399.eb.
2
Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.进行性核上性麻痹:临床病理概念与诊断挑战
Lancet Neurol. 2009 Mar;8(3):270-9. doi: 10.1016/S1474-4422(09)70042-0.
3
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.
Curr Neurol Neurosci Rep. 2018 Jun 8;18(8):44. doi: 10.1007/s11910-018-0860-4.
4
Frequency of variants in autopsy-proven multiple system atrophy.经尸检证实的多系统萎缩中变异的频率。
Mov Disord Clin Pract. 2017 Jul-Aug;4(4):574-581. doi: 10.1002/mdc3.12481. Epub 2017 Apr 3.
5
Variants associated with Gaucher disease in multiple system atrophy.与多系统萎缩相关的戈谢病变异体。
Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28.
6
Glucocerebrosidase and Parkinson disease: Recent advances.葡萄糖脑苷脂酶与帕金森病:最新进展
Mol Cell Neurosci. 2015 May;66(Pt A):37-42. doi: 10.1016/j.mcn.2015.03.013. Epub 2015 Mar 20.
7
Genetic convergence of Parkinson's disease and lysosomal storage disorders.帕金森病与溶酶体贮积症的遗传趋同
Mol Neurobiol. 2015;51(3):1554-68. doi: 10.1007/s12035-014-8832-4. Epub 2014 Aug 7.
8
Glucocerebrosidase is shaking up the synucleinopathies.葡萄糖脑苷脂酶正在颠覆神经核蛋白病领域。
Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14.
9
Gaucher disease: insights from a rare Mendelian disorder.戈谢病:一种罕见孟德尔疾病的见解
Discov Med. 2012 Oct;14(77):273-81.
10
The link between the GBA gene and parkinsonism.GBA 基因与帕金森病之间的联系。
Lancet Neurol. 2012 Nov;11(11):986-98. doi: 10.1016/S1474-4422(12)70190-4.
遗传性帕金森病的新兴途径:神经酰胺代谢在路易体病中的潜在作用。
FEBS J. 2008 Dec;275(23):5767-73. doi: 10.1111/j.1742-4658.2008.06709.x.
4
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.与葡糖脑苷脂酶突变相关的帕金森氏症表现谱。
Arch Neurol. 2008 Oct;65(10):1353-7. doi: 10.1001/archneur.65.10.1353.
5
Altered lipid metabolism in brain injury and disorders.脑损伤和疾病中脂质代谢的改变。
Subcell Biochem. 2008;49:241-68. doi: 10.1007/978-1-4020-8831-5_9.
6
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.
7
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.葡萄糖脑苷脂酶基因突变:路易体疾病的一个风险因素。
Arch Neurol. 2008 Mar;65(3):379-82. doi: 10.1001/archneurol.2007.68.
8
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.阿什肯纳兹犹太人中葡萄糖脑苷脂酶基因突变与帕金森病
N Engl J Med. 2004 Nov 4;351(19):1972-7. doi: 10.1056/NEJMoa033277.
9
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?伴有帕金森氏症表现的戈谢病:葡糖脑苷脂酶缺乏是否会导致对帕金森病的易感性?
Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4.