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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

24 Nov 2014

Abstract excerpt

Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exome sequencing and...

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PMID: 25422467
DOI: 10.1073/pnas.1419581111

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