Article
Investigating the role of FUS exonic variants in essential tremor.
Parkinsonism & related disorders - 1 Aug 2013
Labbé Catherine, Soto-Ortolaza Alexandra I, Rayaprolu Sruti, Harriott Andrea M, Strongosky Audrey J, Uitti Ryan J, Van Gerpen Jay A, Wszolek Zbigniew K, Ross Owen A
Abstract excerpt
Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown. A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French...
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