The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

Velez-Pardo Carlos; Lorenzo-Betancor Oswaldo; Jimenez-Del-Rio Marlene; Moreno Sonia; Lopera Francisco; Cornejo-Olivas Mario; Torres Luis; Inca-Martinez Miguel; Mazzetti Pilar; Cosentino Carlos; Yearout Dora; Waldherr Sarah M.; Zabetian Cyrus P.; Mata Ignacio F.

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The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

机译：GBA变种在哥伦比亚和秘鲁大型PD患者队列中GBA变体的分布及风险效应

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摘要

Background: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations.

机译：背景：葡萄糖脑苷酶（GBA）基因中的突变是帕金森病（PD）的重要危险因素。然而，PD中的大多数GBA遗传学研究已经在欧洲起源患者中进行，并且在其他人口中可以获得很少的数据。

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来源
《Parkinsonism & related disorders》 |2019年第2019期|共5页
作者
Velez-Pardo Carlos; Lorenzo-Betancor Oswaldo; Jimenez-Del-Rio Marlene; Moreno Sonia; Lopera Francisco; Cornejo-Olivas Mario; Torres Luis; Inca-Martinez Miguel; Mazzetti Pilar; Cosentino Carlos; Yearout Dora; Waldherr Sarah M.; Zabetian Cyrus P.; Mata Ignacio F.;
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作者单位

Univ Antioquia UdeA Fac Med Med Res Inst Neurosci Res Grp Medellin Antioquia Colombia;

Vet Affairs Puget Sound Hlth Care Syst Seattle WA USA;

Univ Antioquia UdeA Fac Med Med Res Inst Neurosci Res Grp Medellin Antioquia Colombia;

Univ Antioquia UdeA Fac Med Med Res Inst Neurosci Res Grp Medellin Antioquia Colombia;

Univ Antioquia UdeA Fac Med Med Res Inst Neurosci Res Grp Medellin Antioquia Colombia;

Inst Nacl Ciencias Neurol Neurogenet Res Ctr Lima Peru;

Inst Nacl Ciencias Neurol Movement Disorders Unit Lima Peru;

Inst Nacl Ciencias Neurol Neurogenet Res Ctr Lima Peru;

Inst Nacl Ciencias Neurol Neurogenet Res Ctr Lima Peru;

Inst Nacl Ciencias Neurol Movement Disorders Unit Lima Peru;

Vet Affairs Puget Sound Hlth Care Syst Seattle WA USA;

Vet Affairs Puget Sound Hlth Care Syst Seattle WA USA;

Vet Affairs Puget Sound Hlth Care Syst Seattle WA USA;

Vet Affairs Puget Sound Hlth Care Syst Seattle WA USA;

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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
Parkinson's disease; Genetics; Gaucher's disease; Glucocerebrosidase; GBA; Colombia; Peru;

机译：帕金森病;遗传学;Gaucher病;葡萄糖纤维素酶;GBA;哥伦比亚;秘鲁;

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1. The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru [J] . Velez-Pardo Carlos, Lorenzo-Betancor Oswaldo, Jimenez-Del-Rio Marlene, Parkinsonism & related disorders . 2019,第期

机译：GBA变种在哥伦比亚和秘鲁大型PD患者队列中GBA变体的分布及风险效应
2. Grey matter disease distributions in a colombian cohort of patients with frontotemporal degeneration [J] . Reyes P., Santamaria-Garcia H., Uriza F., Journal of Neurochemistry: Offical Journal of the International Society for Neurochemistry . 2016,第Suppla1期

机译：额颞变性患者哥伦比亚人群中的灰质疾病分布
3. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association [J] . Olga M. Moreno, Javier Benítez, Jordi Surallés, Molecular syndromology . 2020,第5期

机译：哥伦比亚联想患者队列队列中的表型特征及拷贝数变体
4. Incidence of the CFTR Variant p.F508C in a Cohort of Patients with CBAVD [C] . Karine Jacob, Andrea Ruchon International Molecular Medicine Tri-Conference. . 2015

机译：CFTR变体p.f508c在CBAVD患者队列中的发病率
5. Acquired Low Immunoglobulin Levels and Risk of Clinically Relevant Infection in Adult Patients with Systemic Lupus Erythematosus Cohort Study [D] . Almaghlouth, Ibrahim Ali S. 2019

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6. Precision medicine in Parkinson’s disease patients with LRRK2 and GBA risk variants – Let’s get even more personal [O] . Christian U. von Linstow, Ziv Gan-Or, Patrik Brundin 2020

机译：Parkinson病患者患有LRRK2和GBA风险变体的精确药物 - 让我们更加个人
7. The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru [O] . Carlos Velez-Pardo, Oswaldo Lorenzo-Betancor, Marlene Jimenez-Del-Rio, 2019

机译：GBA变种在哥伦比亚和秘鲁的大群群中GBA变种的分布及风险效应

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

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