Article
FUS-linked essential tremor associated with motor dysfunction in Drosophila.
Human genetics - 1 Nov 2016
Tio Murni, Wen Rujing, Lim Yih Lin, Wang Huashan, Ling Shuo-Chien, Zhao Yi, Tan Eng-King
Abstract excerpt
Essential tremor (ET) is one of the most common adult-onset neurological disorders which produce motor and non-motor symptoms. To date, there are no gold standard pathological hallmarks of ET, and despite a strong genetic contribution toward ET development, only a few pathogenic mutations have been identified. Recently, a pathogenic FUS-Q290X mutation has been reported in a large ET-affected family; however, the...
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