## Abstract The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by
โฆ LIBER โฆ
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
โ Scribed by Jose Bras; Rita Guerreiro; Maria Ribeiro; Ana Morgadinho; Cristina Januario; Margarida Dias; Ana Calado; Cristina Semedo; Catarina Oliveira; John Hardy; Andrew Singleton
- Book ID
- 115009494
- Publisher
- BioMed Central
- Year
- 2008
- Tongue
- English
- Weight
- 964 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1471-2377
No coin nor oath required. For personal study only.
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To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; ฮฑ-__synuclein__ (__SNCA__), __parkin__ (__PARK2__), __PTEN-induced putative kinase 1__ (__PINK1__), __DJ-1__ (__PARK7__), and __Leucine-rich repeat kin
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