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Analysis of Parkinson disease patients from Portugal for mutations in SNCA PRKN PINK1 and LRRK2

机译：葡萄牙帕金森病患者SNCAPRKNPINK1和LRRK2突变的分析

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摘要

BackgroundMutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.

机译：背景PRKN和LRRK2基因突变是帕金森氏病患者中最常见的遗传损伤。我们之前曾报道过，在葡萄牙人中，LRRK2 c.6055G> A； p.G2019S突变是欧洲频率最高的突变之一。

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期刊名称 BMC Neurology
作者
Jose Bras; Rita Guerreiro; Maria Ribeiro; Ana Morgadinho; Cristina Januario; Margarida Dias; Ana Calado; Cristina Semedo; Catarina Oliveira; John Hardy; Andrew Singleton;
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作者单位

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年(卷),期 2008(8),-1
年度 2008
页码 1
总页数 6
原文格式 PDF
正文语种
中图分类神经病学;
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专利

1. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2 [J] . Jose Bras, Rita Guerreiro, Maria Ribeiro, BMC Neurology . 2008,第1期

机译：葡萄牙帕金森病患者SNCA，PRKN，PINK1和LRRK2突变的分析
2. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. [J] . Camargos ST, Dornas LO, Momeni P, Movement disorders . 2009,第5期

机译：一家巴西运动障碍诊所的家族性帕金森病和帕金森氏病早期发作：SNCA，PRKN，PINK1和LRRK2突变的表型特征和频率。
3. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. [J] . Nuytemans K, Theuns J, Cruts M, Human mutation . 2010,第7期

机译：与SNCA，PARK2，PINK1，PARK7和LRRK2基因突变相关的帕金森病的遗传病因：突变更新。
4. Biochemical basis of activation of the Parkinson's disease-causative Leueihe-Rich Repeat Kinase 2 (LRRK2) by the disease-associated G2019S mutation [C] . Heung-Chin Cheng, Ryan Mills, Tim Johnson Incorporating of the Australian Society for Biochemistry and Molecular Biology Combio . 2009

机译：疾病相关的G2019S突变激活帕金森疾病疾病疾病患者致病性乳酪肝致致残的重复激酶2（LRRK2）的生化基础
5. The involvement of hereditary hemochromatosis mutations (C282Y and H63D) in familial Alzheimer disease and Parkinson disease and their purported origins through epidemic pathogenic selection [D] . Moalem, Sharon. 2003

机译：遗传性血细胞化突变（C282Y和H63D）在家族性阿尔茨海默病和帕金森病中的涉及及其通过流行病致病选择所称的起源
6. Familial Parkinsonism and early onset Parkinsons disease in a Brazilian Movement Disorders clinic: Phenotypic characterization and frequency of SNCA PRKN PINK1 and LRRK2 mutations [O] . Sarah Teixeira Camargos, Leonardo Oliveira Dornas, Parastoo Momeni, -1

机译：在巴西运动障碍诊所的家族帕金森和早期发病帕金森病：SNCAPRKNPINK1和LRRK2突变的表型表征和频率
7. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2 [O] . Calado Ana, Dias Margarida, Januario Cristina, 2008

机译：葡萄牙帕金森病患者SNCA，PRKN，PINK1和LRRK2突变的分析

Analysis of Parkinson disease patients from Portugal for mutations in SNCA PRKN PINK1 and LRRK2

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