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Targeted genetic screen in Amyotrophic lateral sclerosis reveals novel genetic ...

Cooper-Knock, Johnathan; Robins, Henry; Niedermoser, Isabell; Wyles, Matthew; Heath, Paul R.; Higginbottom, Adrian; Walsh, Theresa; Kazoka, Mbombe

Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additional similar proteins will yield novel genetic causes of ALS. The most common genetic variant of ALS patients is a G4C2-repeat expansion within C9ORF72. We have sho...

Date: 2017   |   Origin: Repositório da Universidade de Lisboa
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