Article
Next-generation phenotyping using the parkin example: time to catch up with genetics.
JAMA neurology - 1 Sept 2013
Grünewald Anne, Kasten Meike, Ziegler Andreas, Klein Christine
Abstract excerpt
IMPORTANCE: Two decades of intense research have led to important insights into the pathophysiology of neurodegenerative diseases, with limited direct clinical impact. While next-generation sequencing has emerged as a powerful research tool, we hypothesized that systematic exploitation of phenotypic data are lagging behind genetic advances. OBJECTIVES: To use the 15-year experience with parkin-associated...
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