Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations

Yahalom Gilad; Greenbaum Lior; Israeli-Korn Simon; Fay-Karmon Tsvia; Livneh Vered; Ruskey Jennifer A.; Ronciere Leanne; Alam Armaghan; Gan-Or Ziv; Hassin-Baer Sharon

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Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations

机译：GBA和LRRK2突变的载体与帕金森病的载体相比：风险估算和基因型 - 表型相关性

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Introduction: The clinical characteristics of Parkinson's disease (PD) associated with both the LRRK2 p.G2019S mutation and a GBA variant (LRRK2-GBA-PD) have not yet been determined.

机译：介绍：尚未确定与LRRK2 P.G2019S突变和GBA变体（LRRK2-GBA-PD）相关的帕金森病（PD）的临床特征。

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来源
《Parkinsonism & related disorders》 |2019年第2019期|共6页
作者
Yahalom Gilad; Greenbaum Lior; Israeli-Korn Simon; Fay-Karmon Tsvia; Livneh Vered; Ruskey Jennifer A.; Ronciere Leanne; Alam Armaghan; Gan-Or Ziv; Hassin-Baer Sharon;
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作者单位

Sheba Med Ctr Movement Disorders Inst Dept Neurol Tel Hashomer Israel;

Sheba Med Ctr Sagol Neurosci Ctr Tel Hashomer Israel;

Sheba Med Ctr Movement Disorders Inst Dept Neurol Tel Hashomer Israel;

Sheba Med Ctr Movement Disorders Inst Dept Neurol Tel Hashomer Israel;

Sheba Med Ctr Movement Disorders Inst Dept Neurol Tel Hashomer Israel;

McGill Univ Montreal Neurol Inst Montreal PQ Canada;

McGill Univ Fac Med Montreal PQ Canada;

McGill Univ Montreal Neurol Inst Montreal PQ Canada;

McGill Univ Montreal Neurol Inst Montreal PQ Canada;

Sheba Med Ctr Movement Disorders Inst Dept Neurol Tel Hashomer Israel;

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原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
关键词
GBA; LRRK2; Parkinson's disease;

机译：GBA;LRRK2;帕金森病;

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1. Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations [J] . Yahalom Gilad, Greenbaum Lior, Israeli-Korn Simon, Parkinsonism & related disorders . 2019,第期

机译：GBA和LRRK2突变的载体与帕金森病的载体相比：风险估算和基因型 - 表型相关性
2. CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson’s disease: a study in LRRK2 mutation carriers [J] . Nour K. Majbour, Jan O. Aasly, Eldbj?rg Hustad, Translational Neurodegeneration . 2020,第1期

机译：CSF总和低聚α-突触核蛋白以及TNF-α作为帕金森病的风险生物标志物：LRRK2突变载体的研究
3. CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson’s disease: a study in LRRK2 mutation carriers [J] . Nour K.Majbour, Jan O.Aasly, Eldbjørg Hustad, 转化神经变性病(英文) . 2020,第002期

机译：CSF总和寡聚α-突触核蛋白与TNF-α作为帕金森氏病的危险生物标志物：一项关于LRRK2突变携带者的研究
4. A Model to Explain 11C-PBR28 SUV Profile in Parkinson’s disease and Unaffected Lrrk2 Mutation Carriers [C] . Rostom Mabrouk IEEE Nuclear Science Symposium;Medical Imaging Conference . 2017

机译：解释帕金森氏病和未受影响的Lrrk2突变携带者的11C-PBR28 SUV概况的模型
5. Patients' opinions on genetic counseling on the increased risk of Parkinson's disease among Gaucher disease carriers [D] . Mulhern, Maureen 2015

机译：患者对高彻病携带者中帕金森氏病风险增加的遗传咨询意见
6. Self-report of cognitive impairment and Mini-Mental State Exam performance in PRKN LRRK2 and GBA carriers with early onset Parkinson’s disease [O] . Roy N. Alcalay, Helen Mejia-Santana, Ming X. Tang, -1

机译：在PRKNLRRK2和GBA携带者的认知障碍和迷你精神状态考试表现的自我报告早期发作帕金森病
7. CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson’s disease: a study in LRRK2 mutation carriers [O] . Nour K. Majbour, Jan O. Aasly, Eldbjørg Hustad, 2020

机译：CSF总和低聚α-突触核蛋白以及TNF-α作为帕金森病的风险生物标志物：LRRK2突变载体的研究

Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations

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