## Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quanti
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease
β Scribed by Laura L. Kilarski; Justin P. Pearson; Victoria Newsway; Elisa Majounie; M. Duleeka W. Knipe; Anjum Misbahuddin; Patrick F. Chinnery; David J. Burn; Carl E. Clarke; Marie-Helene Marion; Alistair J. Lewthwaite; David J. Nicholl; Nicholas W. Wood; Karen E. Morrison; Caroline H. Williams-Gray; Jonathan R. Evans; Stephen J. Sawcer; Roger A. Barker; Mirdhu M. Wickremaratchi; Yoav Ben-Shlomo; Nigel M. Williams; Huw R. Morris
- Book ID
- 115560007
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 598 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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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; Ξ±-__synuclein__ (__SNCA__), __parkin__ (__PARK2__), __PTEN-induced putative kinase 1__ (__PINK1__), __DJ-1__ (__PARK7__), and __Leucine-rich repeat kin
## 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