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1.
  • van Rheenen, Wouter, et al. (author)
  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
  • 2016
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
  • Journal article (peer-reviewed)abstract
    • To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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2.
  • Lieder, R. M., et al. (author)
  • Development of magnetic rotation in light Gd nuclei; study of Gd-142
  • 2002
  • In: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 13:3, s. 297-305
  • Journal article (peer-reviewed)abstract
    • High-spin states in Gd-142 have been populated by means of the Ru-99(Ti-48, 2p3n) reaction at 2-10 MeV and investigated with the gamma-spectrometer EUROBALL III and the charged-particle detector array ISIS. The features of four dipole bands have been determined and compared with tilted-axis cranking model calculations indicating that they are magnetic rotational bands. A transition from regular to irregular bands has been found approaching N = 82 demonstrating that this is a general phenomenon in nuclei near a double-shell closure.
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