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

Unal Gulsuner, Hilal; Gulsuner, Suleyman; Nazli Mercan, Fatma; Emre Onat, Onur; Walsh, Tom; Shahin, Hashem; K Lee, Ming; Dogu, Okan; Kansu, Tulay; Topaloglu, Haluk; Elibol, Bulent; Akbostanci, Cenk; King, Mary-Claire; Ozcelik, Tayfun; B Tekinay, Ayse

doi:10.1073/pnas.1419581111

Public

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

Shared by NobleBlocks on Dec 23, 2014 • 12:00 AM UTC

Authors:

Hilal Unal Gulsuner

Suleyman Gulsuner

Fatma Nazli Mercan

Abstract

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 consangu...

Subject

DNA sequencing

gene identification

mitochondrial dysfunction

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