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Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

✍ Scribed by J. Prestel; K. Gempel; T. K. Hauser; K. Schweitzer; H. Prokisch; U. Ahting; D. Freudenstein; E. Bueltmann; T. Naegele; D. Berg; T. Klopstock; T. Gasser


Book ID
106093913
Publisher
Springer
Year
2008
Tongue
English
Weight
323 KB
Volume
255
Category
Article
ISSN
0340-5354

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## 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