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A heterozygous effect for PINK1 mutations in Parkinson's disease?

โœ Scribed by Patrick M. Abou-Sleiman; Miratul M. K. Muqit; Neil Q. McDonald; Yan Xiang Yang; Sonia Gandhi; Daniel G. Healy; Kirsten Harvey; Robert J. Harvey; Emma Deas; Kailash Bhatia; Niall Quinn; Andrew Lees; David S. Latchman; Nicholas W. Wood


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
101 KB
Volume
60
Category
Article
ISSN
0364-5134

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Lewy body Parkinson's disease in a large
โœ Peter P. Pramstaller; Michael G. Schlossmacher; Thomas S. Jacques; Francesco Sca ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 292 KB ๐Ÿ‘ 1 views

We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in 77 subjects. Among the 25 patients, 5 carried compound heterozygous mutations