Browsing Centre for Neuroscience, Surgery and Trauma by Subject "WES"

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    • ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function 

      de Majo, M; Topp, SD; Smith, BN; Nishimura, AL; Chen, H-J; Gkazi, AS; Miller, J; Wong, CH; Vance, C; Baas, F (Elsevier, 2018-06-25)
      Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are ...

    • 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 ...