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Sarcopenia in Acute Care Patients: Protocol for the European Collaboration of G...
Sanchez-Rodriguez, Dolores; Hope, Suzy; Piotrowicz, Karolina; Benoit, Florence; Czesak, Joanna; Dallmeier, Dhayana; Decker, Genia; De Spiegeleer, Anton
Date: 2019
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Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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