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- Girard-Alcindor, V., et al.
(författare)
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New narrow resonances observed in the unbound nucleus F 15
- 2022
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Ingår i: Physical Review C. - : American Physical Society (APS). - 2469-9985 .- 2469-9993. ; 105:5
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Tidskriftsartikel (refereegranskat)abstract
- The structure of the unbound F15 nucleus is investigated using the inverse kinematics resonant scattering of a radioactive O14 beam impinging on a CH2 target. The analysis of H1(O14,p)O14 and H1(O14,2p)N13 reactions allowed the confirmation of the previously observed narrow 1/2- resonance, near the two-proton decay threshold, and the identification of two new narrow 5/2- and 3/2- resonances. The newly observed levels decay by 1p emission to the ground of O14, and by sequential 2p emission to the ground state of N13 via the 1- resonance of O14. Gamow shell model (GSM) analysis of the experimental data suggests that the wave functions of the 5/2- and 3/2- resonances may be collectivized by the continuum coupling to nearby 2p- and 1p-decay channels. The observed excitation function H1(O14,p)O14 and resonance spectrum in F15 are well reproduced in the unified framework of the GSM.
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| 4. |
- Zanon, I., et al.
(författare)
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High-Precision Spectroscopy of 20O Benchmarking Ab Initio Calculations in Light Nuclei
- 2023
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Ingår i: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 131:26
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Tidskriftsartikel (refereegranskat)abstract
- The excited states of unstable 20O were investigated via γ-ray spectroscopy following the 19O(d,p)20O reaction at 8 AMeV. By exploiting the Doppler shift attenuation method, the lifetimes of the 2+2 and 3+1 states were firmly established. From the γ-ray branching and E2/M1 mixing ratios for transitions deexciting the 2+2 and 3+1 states, the B(E2) and B(M1) were determined. Various chiral effective field theory Hamiltonians, describing the nuclear properties beyond ground states, along with a standard USDB interaction, were compared with the experimentally obtained data. Such a comparison for a large set of γ-ray transition probabilities with the valence space in medium similarity renormalization group ab initio calculations was performed for the first time in a nucleus far from stability. It was shown that the ab initio approaches using chiral effective field theory forces are challenged by detailed high-precision spectroscopic properties of nuclei. The reduced transition probabilities were found to be a very constraining test of the performance of the ab initio models.
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| 6. |
- Kenna, Kevin P., et al.
(författare)
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1037-1042
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
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| 9. |
- Hedell, Ronny, 1985, et al.
(författare)
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Surveillance of animal diseases through implementation of a Bayesian spatio-temporal model: A simulation example with neurological syndromes in horses and West Nile Virus
- 2019
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Ingår i: Preventive Veterinary Medicine. - : Elsevier BV. - 0167-5877. ; 162, s. 95-106
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Tidskriftsartikel (refereegranskat)abstract
- A potentially sensitive way to detect disease outbreaks is syndromic surveillance, i.e. monitoring the number of syndromes reported in the population of interest, comparing it to the baseline rate, and drawing conclusions about outbreaks using statistical methods. A decision maker may use the results to take disease control actions or to initiate enhanced epidemiological investigations. In addition to the total count of syndromes there are often additional pieces of information to consider when assessing the probability of an outbreak. This includes clustering of syndromes in space and time as well as historical data on the occurrence of syndromes, seasonality of the disease, etc. In this paper, we show how Bayesian theory for syndromic surveillance applies to the occurrence of neurological syndromes in horses in France. Neurological syndromes in horses may be connected e.g. to West Nile Virus (WNV), a zoonotic disease of growing concern for public health in Europe. A Bayesian method for spatio-temporal cluster detection of syndromes and for determining the probability of an outbreak is presented. It is shown how surveillance can be performed simultaneously for a specific class of diseases (WNV or diseases similar to WNV in terms of the information available to the system) and a non-specific class of diseases (not similar to WNV in terms of the information available to the system). We also discuss some new extensions to the spatio-temporal models and the computational algorithms involved. It is shown step-by-step how data from historical WNV outbreaks and surveillance data for neurological syndromes can be used for model construction. The model is implemented using a Gibbs sampling procedure, and its sensitivity and specificity is evaluated. Finally, it is illustrated how predictive modelling of syndromes can be useful for decision making in animal health surveillance. © 2018 Elsevier B.V.
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| 10. |
- Akimoto, Chizuru, et al.
(författare)
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
- 2014
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 51:6, s. 419-424
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Tidskriftsartikel (refereegranskat)abstract
- Background The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared methods and results of 14 laboratories. Methods The 14 laboratories genotyped DNA from 78 individuals (diagnosed with ALS or FTD) in a blinded fashion. Eleven laboratories used a combination of amplicon-length analysis and RP-PCR, whereas three laboratories used RP-PCR alone; Southern blotting techniques were used as a reference. Results Using PCR-based techniques, 5 of the 14 laboratories got results in full accordance with the Southern blotting results. Only 50 of the 78 DNA samples got the same genotype result in all 14 laboratories. There was a high degree of false positive and false negative results, and at least one sample could not be genotyped at all in 9 of the 14 laboratories. The mean sensitivity of a combination of amplicon-length analysis and RP-PCR was 95.0% (73.9-100%), and the mean specificity was 98.0% (87.5-100%). Overall, a sensitivity and specificity of more than 95% was observed in only seven laboratories. Conclusions Because of the wide range seen in genotyping results, we recommend using a combination of amplicon-length analysis and RP-PCR as a minimum in a research setting. We propose that Southern blotting techniques should be the gold standard, and be made obligatory in a clinical diagnostic setting.
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