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Genome-wide analyses identify KIF5A as a novel ALS gene
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Int...
Date: 2018
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Origin: Repositório da Universidade de Lisboa
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degene...
Rollinson, Sara; Rizzu, Patrizia; Sikkink, Stephen; Baker, Matthew; Halliwell, Nicola; Snowden, Julie; Traynor, Bryan J.; Ruano, Dina; Cairns, Nigelhttp://www.sciencedirect.com/science/article/B6T09-4VKMW0R-1/2/c38ac7e3dcb87f1e42d35a151a3f69b2
Date: 2009
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Origin: Estudo Geral - Universidade de Coimbra