Browsing by Author "La Bella, V"

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    • ATXN2 trinucleotide repeat length correlates with risk of ALS 

      Sproviero, W; Shatunov, A; Stahl, D; Shoai, M; van Rheenen, W; Jones, AR; Al-Sarraj, S; Andersen, PM; Bonini, NM; Conforti, FL (Elsevier/Science Direct, 2016-11-24)
      We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ...

    • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 

      Nicolas, A; Kenna, KP; Renton, AE; Ticozzi, N; Faghri, F; Chia, R; Dominov, JA; Kenna, BJ; Nalls, MA; Keagle, P (Elsevier (Cell Press), 2018-03-21)
      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 ...