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Sökning: WFRF:(Stokholm J.) > Lunds universitet

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  • Aguirre Børsen-Koch, V., et al. (författare)
  • The BAyesian STellar algorithm (BASTA) : A fitting tool for stellar studies, asteroseismology, exoplanets, and Galactic archaeology
  • 2022
  • Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 509:3, s. 4344-4364
  • Tidskriftsartikel (refereegranskat)abstract
    • We introduce the public version of the BAyesian STellar Algorithm (BASTA), an open-source code written in Python to determine stellar properties based on a set of astrophysical observables. BASTA has been specifically designed to robustly combine large data sets that include asteroseismology, spectroscopy, photometry, and astrometry. We describe the large number of asteroseismic observations that can be fit by the code and how these can be combined with atmospheric properties (as well as parallaxes and apparent magnitudes), making it the most complete analysis pipeline available for oscillating main-sequence, subgiant, and red giant stars. BASTA relies on a set of pre-built stellar isochrones or a custom-designed library of stellar tracks, which can be further refined using our interpolation method (both along and across stellar tracks or isochrones). We perform recovery tests with simulated data that reveal levels of accuracy at the few percent level for radii, masses, and ages when individual oscillation frequencies are considered, and show that asteroseismic ages with statistical uncertainties below 10 per cent are within reach if our stellar models are reliable representations of stars. BASTAis extensively documented and includes a suite of examples to support easy adoption and further development by new users.
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  • Lindquist, SG, et al. (författare)
  • Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
  • 2013
  • Ingår i: Clinical Genetics. - : Wiley. - 0009-9163. ; 83:3, s. 279-283
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS). We here report the prevalence of the expansion in a hospital-based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat-primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD-ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD-ALS disorders. There was no indication of a modifying effect of the ATXN2 gene.
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