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Sökning: WFRF:(Glass JD)

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1.
  • Dewan, Ramita, et al. (författare)
  • Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
  • 2020
  • Ingår i: Neuron. - : Cell Press. - 0896-6273. ; 109:3, s. 448-460.e4
  • Tidskriftsartikel (refereegranskat)abstract
    • Using large-scale whole-genome sequencing, Dewan et al. identify pathogenic HTT repeat expansions in patients diagnosed with FTD/ALS neurodegenerative disorders. Autopsies confirm the TDP-43 pathology expected in FTD/ALS and show polyglutamine inclusions within the frontal cortices but no striatal degeneration. These data broaden the phenotype resulting from HTT repeat expansions.
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2.
  • van Es, Michael A, et al. (författare)
  • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
  • 2009
  • Ingår i: Nature genetics. - 1546-1718. ; 41:10, s. 1083-1087
  • Tidskriftsartikel (refereegranskat)abstract
    • We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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3.
  • Abt, I, et al. (författare)
  • Inclusive V-0 production cross sections from 920 GeV fixed target proton-nucleus collisions
  • 2003
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044. ; 29:2, s. 181-190
  • Tidskriftsartikel (refereegranskat)abstract
    • Inclusive differential cross sections dsigma(pA)/dx(F) and dsigma(pA)/dp(t)(2) for the production of K-S(0), Lambda, and (&ULambda;) over bar particles are measured at HERA in proton-induced reactions on C, Al, Ti, and W targets. The incident beam energy is 920 GeV, corresponding to roots = 41.6 GeV in the proton-nucleon system. The ratios of differential cross sections dsigma(pA)(K-S(0))/dsigma(pA)(Lambda) and dsigma(pA)((&ULambda;) over bar)/dsigma(pA) (Lambda) are measured to be 6.2 +/- 0.5 and 0.66 +/- 0.07, respectively, for x(F) approximate to -0.06. No significant dependence upon the target material is observed. Within errors, the slopes of the transverse momentum distributions da,Ald t also show no significant dependence upon the target material. The dependence of the extrapolated total cross sections sigma(pA) on the atomic mass A of the target material is discussed, and the deduced cross sections per nucleon sigma(pN) are compared with results obtained at other energies.
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4.
  • Abt, I, et al. (författare)
  • Measurement of the b(b)over-bar production cross section in 920 GeV fixed-target proton-nucleus collisions
  • 2003
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044. ; 26:3, s. 345-355
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the HERA-B detector, the b (b) over bar production cross section has been measured in 920 GeV proton collisions on carbon and titanium targets. The b (b) over bar production was tagged via inclusive bottom quark decays into J/psi by exploiting the longitudinal separation of J/psi --> l(+)l(-) decay vertices from the primary proton-nucleus interaction. Both e(+)e(-) and mu(+)mu(-) channels have been reconstructed and the combined analysis yields the cross section sigma(b (b) over bar) = 32(-12)(+14)(stat) (+6)(-7)(sys) nb/nucleon.
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