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Sökning: WFRF:(Abramovic L) > (2019)

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1.
  • Satizabal, Claudia L., et al. (författare)
  • Genetic architecture of subcortical brain structures in 38,851 individuals
  • 2019
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
  • Tidskriftsartikel (refereegranskat)abstract
    • Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
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3.
  • Salewski, M., et al. (författare)
  • Diagnostic of fast-ion energy spectra and densities in magnetized plasmas
  • 2019
  • Ingår i: Journal of Instrumentation. - : Institute of Physics Publishing (IOPP). - 1748-0221 .- 1748-0221. ; 14
  • Tidskriftsartikel (refereegranskat)abstract
    • The measurement of the energy spectra and densities of alpha-particles and other fast ions are part of the ITER measurement requirements, highlighting the importance of energy-resolved energetic-particle measurements for the mission of ITER. However, it has been found in recent years that the velocity-space interrogation regions of the foreseen energetic-particle diagnostics do not allow these measurements directly. We will demonstrate this for gamma-ray spectroscopy (GRS), collective Thomson scattering (CTS), neutron emission spectroscopy and fast-ion D-alpha spectroscopy by invoking energy and momentum conservation in each case, highlighting analogies and differences between the different diagnostic velocity-space sensitivities. Nevertheless, energy spectra and densities can be inferred by velocity-space tomography which we demonstrate using measurements at JET and ASDEX Upgrade. The measured energy spectra agree well with corresponding simulations. At ITER, alpha-particle energy spectra and densities can be inferred for energies larger than 1.7 MeV by velocity-space tomography based on GRS and CTS. Further, assuming isotropy of the alpha-particles in velocity space, their energy spectra and densities can be inferred by 1D inversion of spectral single-detector measurements down to about 300 keV by CTS. The alpha-particle density can also be found by fitting a model to the CTS measurements assuming the alpha-particle distribution to be an isotropic slowing-down distribution.
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