| 1. |
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| 2. |
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| 3. |
- Bonham, LW, et al.
(författare)
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10854-
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Tidskriftsartikel (refereegranskat)abstract
- The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.
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| 4. |
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| 5. |
- Gao, YX, et al.
(författare)
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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
- 2020
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1, s. 12184-
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Tidskriftsartikel (refereegranskat)abstract
- We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We further evaluated mediation roles of lipids in the pathway from LTL to ALS. The odds ratio per standard deviation decrease of LTL on ALS was 1.10 (95% CI 0.93–1.31, p = 0.274) in the European population and 0.75 (95% CI 0.53–1.07, p = 0.116) in the Asian population. This null association was also detected between LTL and frontotemporal dementia in the European population. However, we found that an indirect effect of LTL on ALS might be mediated by low density lipoprotein (LDL) or total cholesterol (TC) in the European population. These results were robust against extensive sensitivity analyses. Overall, our MR study did not support the direct causal association between LTL and the ALS risk in neither population, but provided suggestive evidence for the mediation role of LDL or TC on the influence of LTL and ALS in the European population.
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| 6. |
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| 7. |
- Cubero, M., et al.
(författare)
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Do Halo Nuclei Follow Rutherford Elastic Scattering at Energies Below the Barrier? The Case of 11Li
- 2012
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Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 109:26
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Tidskriftsartikel (refereegranskat)abstract
- The first measurement of the elastic scattering of the halo nucleus 11Li and its core 9Li on 208Pb at energies near the Coulomb barrier is presented. The 11Li+208Pb elastic scattering shows a strong reduction with respect to the Rutherford cross section, even at energies well below the barrier and down to very small scattering angles. This drastic change of the elastic differential cross section observed in 11Li+208Pb is the consequence of the halo structure of 11Li, as it is not observed in the elastic scattering of its core 9Li at the same energies. Four-body continuum-discretized coupled-channels calculations, based on a three-body model of the 11Li projectile, are found to explain the measured angular distributions and confirm that the observed reduction is mainly due to the strong Coulomb coupling to the dipole states in the low-lying continuum of 11Li. These calculations suggest the presence of a low-lying dipole resonance in 11Li close to the breakup threshold.
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| 8. |
- Fernandez-Garcia, J. P., et al.
(författare)
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11Li Breakup on 208Pb at Energies Around the Coulomb Barrier
- 2013
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Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 110:14
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Tidskriftsartikel (refereegranskat)abstract
- The inclusive breakup for the Li-11 + Pb-208 reaction at energies around the Coulomb barrier has been measured for the first time. A sizable yield of Li-9 following the Li-11 dissociation has been observed, even at energies well below the Coulomb barrier. Using the first-order semiclassical perturbation theory of Coulomb excitation it is shown that the breakup probability data measured at small angles can be used to extract effective breakup energy as well as the slope of B(E1) distribution close to the threshold. Four-body continuum-discretized coupled-channels calculations, including both nuclear and Coulomb couplings between the target and projectile to all orders, reproduce the measured inclusive breakup cross sections and support the presence of a dipole resonance in the Li-11 continuum at low excitation energy.
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| 9. |
- Fernandez-Garcia, J. P., et al.
(författare)
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Li-11 structural information from inclusive break-up measurements
- 2015
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. ; 88
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Konferensbidrag (refereegranskat)abstract
- Structure information of Li-11 halo nucleus has been obtained from the inclusive break-up measurements of the Li-11+Pb-208 reactions at energies around the Coulomb barrier (E-lab = 24.3 and 29.8 MeV). The effective break-up energy and the slope of B(E1) distribution close to the threshold have been extracted from the experimental data.
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| 10. |
- Fernandez-Garcia, J. P., et al.
(författare)
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Simultaneous analysis of the elastic scattering and breakup channel for the reaction Li-11+Pb-208 at energies near the Coulomb barrier
- 2015
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 92:4
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Tidskriftsartikel (refereegranskat)abstract
- We present a detailed analysis of the elastic scattering and breakup channel for the reaction of Li-11 on Pb-208 at incident laboratory energies of 24.3 and 29.8 MeV, measured at the radioactive ion beam facility of TRIUMF, in Vancouver, Canada. A large yield of Li-9 fragments was detected by four charged particle telescopes in a wide angular range. The experimental angular and energy distributions of these Li-9 fragments have been compared to coupled-reaction-channel and continuum-discretized coupled-channel calculations. The large production of Li-9 fragments at small angles can be explained by considering a direct breakup mechanism, while at medium-large angles a competition between direct breakup and neutron transfer to the continuum of the Pb-208 target was observed.
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| 11. |
- Fernandez-Garcia, J. P., et al.
(författare)
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Study of the break-up channel in 11Li+208Pb collisions at energies around the Coulomb barrier
- 2014
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 515:1
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Konferensbidrag (refereegranskat)abstract
- We present a study of 11Li+208Pb collisions at energies around the Coulomb barrier (Elab 24.3 and 29.8 MeV), measured at the post-accelerated beam facility, ISAC II, at TRIUMF (Vancouver, Canada). A remarkably large yield of 9Li has been observed, a result that is attributed to the weak binding of the 11Li nucleus. The angular distribution of this 9Li yield, relative to the elastic one, has been analysed in terms of first-order semiclassical calculations as well as four-body and three-body Continuum-Discretized Coupled-Channels (CDCC) calculations, based on a three-body and di-neutron model of the 11Li nucleus, respectively. The calculations reproduce well the trend of the data and support the existence of a large concentration of B(E1) strength at very low excitation energies. The connection of this large B(E1) with a possible low-lying dipole resonance is discussed. © Published under licence by IOP Publishing Ltd.
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| 12. |
- Ferrari, Raffaele, et al.
(författare)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 13. |
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| 14. |
- Alcorta, M., et al.
(författare)
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Properties of resonances in 12C above the triple-alpha threshold
- 2011
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 312:SECTION 9, s. Art. no. 092013-
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Konferensbidrag (refereegranskat)abstract
- A complete kinematics study of the 10B(3He, pααα) and the 11B(3He, dααα) reactions has been performed to study the multi-particle break-up of 12C resonances above the triple-alpha threshold. The values of energy and widths of some states has been improved, and in states of natural parity partial branches of decay through the ground state of 8Be have been extracted. The influence of the "ghost" of the 8Be ground state has been taken into account in order to clarify the partial branches.
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| 15. |
- Borge, M. J. G., et al.
(författare)
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Scattering of the halo nucleus 11Li and its core 9Li on 208Pb at energies around the Coulomb barrier
- 2012
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 381:1, s. Art. no. 012085-
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Konferensbidrag (refereegranskat)abstract
- The first measurement of the elastic scattering of the halo nucleus 11Li and its core 9Li on 208Pb at energies around the Coulomb barrier is presented. The 11Li reaction showed a large cross section for the breakup channel, even at energies well below the barrier. The analysis of the 11Li + 208Pb scattering data in terms of the continuum-discretized coupled-channel calculations indicates that the effect of the coupling to the breakup channels produces a strong suppression of the elastic cross section at energies above and below the barrier. This effect is mainly due to the strong Coulomb coupling to the dipole states in the low-lying continuum of 11Li.
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| 16. |
- Borge, M. J. G., et al.
(författare)
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Scattering of the halo nucleus Li-11 and its core Li-9 on Pb-208 at energies around the Coulomb barrier
- 2012
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Ingår i: Journal of Physics: Conference Series. - 1742-6588 .- 1742-6596. ; 381
-
Konferensbidrag (refereegranskat)abstract
- The first measurement of the elastic scattering of the halo nucleus Li-11 and its core Li-9 on Pb-208 at energies around the Coulomb barrier is presented. The Li-11 reaction showed a large cross section for the breakup channel, even at energies well below the barrier. The analysis of the Li-11 + Pb-208 scattering data in terms of the continuum-discretized coupled-channel calculations indicates that the effect of the coupling to the breakup channels produces a strong suppression of the elastic cross section at energies above and below the barrier. This effect is mainly due to the strong Coulomb coupling to the dipole states in the low-lying continuum of Li-11.
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| 17. |
- Cubero, M., et al.
(författare)
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Elastic scattering of 9Li on 208Pb at energies around the Coulomb barrier
- 2011
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Ingår i: AIP Conference Proceedings. - : AIP. - 1551-7616 .- 0094-243X. - 9780735409378 ; 1377, s. 338-340
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Konferensbidrag (refereegranskat)abstract
- We have studied the dynamical effects of the halo structure of 11Li on the scattering on heavy targets at energies around the Coulomb barrier. This experiment was performed at ISAC‐II at TRIUMF with a world record in production of the post‐accelerated 11Li beam. As part of this study we report here on the first measurement of the elastic cross section of the core nucleus, i.e. 9Li on 208Pb, at energies around the Coulomb barrier. A preliminary optical model analysis has been performed in order to extract a global optical potential to describe the measured angular distributions.
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| 18. |
- Cubero, M., et al.
(författare)
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Scattering of 9Li on 208Pb at energies around the Coulomb barrier
- 2011
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. - 9782759806935 ; 17, s. Art. no. 16002-
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Konferensbidrag (refereegranskat)abstract
- In order to study the dynamics of 11Li and 9Li beams in a strong electric field at energies around the Coulomb barrier, we measured at the ISACII-TRIUMF Facility the angular distribution of elastic and inelastic scattering of 11Li+208Pb at 24.2 and 29.7 MeV and 9Li+208Pb at 24, 29.5 and 33 MeV laboratory energies. We present here the first determination of the angular distribution of the cross section of 9Li+208Pb. The results are compared with theoretical calculations using the double-folding São Paulo Potential (SPP) for the real part and a for the imaginary part a Woods-Saxon potential. A good overall agreement is obtained.
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| 19. |
- Kirsebom, O. S., et al.
(författare)
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Breakup of 12C resonances into three α particles
- 2010
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 81:6
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Tidskriftsartikel (refereegranskat)abstract
- The reaction He-3 + B-11 -> d + C-12* has been used to populate resonances in C-12 up to an excitation energy of 15 MeV. The subsequent breakup to three alpha particles has been measured in complete kinematics. Dalitz plots are used to visualize and analyze the data. The Dalitz plot intensity distribution exhibits zero points characteristic of the total spin and parity of the 3 alpha system allowing us to determine the spin and parity of a state in C-12 at 13.35 MeV whose quantum numbers were hitherto not well established. The Dalitz plot intensity distributions of the 2(-) state at 11.83 MeV and the 1(+) state at 12.71 MeV are compared with the predictions of a recent three-body calculation as well as with simpler models. All are able to reproduce the gross structures seen in the Dalitz plot, but none give an accurate description of the detailed profile of the distributions.
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| 20. |
- Kirsebom, O. S., et al.
(författare)
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Improved Limit on Direct α Decay of the Hoyle State
- 2012
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Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 108:20, s. 202501-
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Tidskriftsartikel (refereegranskat)abstract
- The current evaluation of the triple-α reaction rate assumes that the α decay of the 7.65 MeV, 0+ state in 12C, commonly known as the Hoyle state, proceeds sequentially via the ground state of 8Be. This assumption is challenged by the recent identification of two direct α-decay branches with a combined branching ratio of 17(5)%. If correct, this would imply a corresponding reduction in the triple-α reaction rate with important astrophysical consequences. We have used the 11B(3He,d) reaction to populate the Hoyle state and measured the decay to three α particles in complete kinematics. We find no evidence for direct α-decay branches, and hence our data do not support a revision of the triple-α reaction rate. We obtain an upper limit of 5×10-3 on the direct α decay of the Hoyle state at 95% C.L., which is 1 order of magnitude better than a previous upper limit.
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| 21. |
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| 22. |
- Alcorta, M., et al.
(författare)
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Nuclear Structure of C-12 from Break-up Studies in Complete Kinematics
- 2009
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Ingår i: AIP Conference Proceedings. - : AIP. - 1551-7616 .- 0094-243X. - 9780735407022 ; 1165, s. 27-30 461
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Konferensbidrag (refereegranskat)abstract
- A complete kinematics study of the B-10(He-3,p alpha alpha alpha) and B-11(He-3,d alpha alpha alpha) reactions has been performed to study the multi-particle break-up of C-12 resonances above the triple-alpha threshold. Four-particle coincidence detection gives us complete information on the direction and energy of the individual alpha particles from the decay of C-12, allowing us to extract new information on the structure of C-12 which we shall present in this contribution. We have observed gamma de-excitation of the T=1 15.11 MeV resonance using charged particle detectors, and have constructed Dalitz plots of the individual resonances in C-12 using the complete kinematics information of the alpha particles which come from their break-up.
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| 23. |
- Kirsebom, O. S., et al.
(författare)
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Observation of gamma-delayed 3 alpha breakup of the 15.11 and 12.71 MeV states in C-12
- 2009
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 680:1, s. 44-49
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Tidskriftsartikel (refereegranskat)abstract
- The reactions B-10(He-3, p alpha alpha alpha) at 4.9 MeV and B-11(He-3, d alpha alpha alpha) at 8.5 MeV have been used to investigate the gamma decay of states in C-12. By measuring the four-body final state in complete kinematics we are able to detect gamma transitions indirectly. We find gamma transitions from the 15.11 MeV state in C-12 to the 12.71, 11.83, 10.3 and 7.65 MeV states followed by their breakup into three alpha particles. The relative gamma-ray branching ratios obtained are (1.2 +/- 0.3), (0.32 +/- 0.12), (1.4 +/- 0.2) and (4.4 +/- 0.8)%, respectively, with the remaining (92.7 +/- 1.0)% of the gamma decays going to the bound states. We obtain Gamma(alpha)/Gamma = (2.8 +/- 1.2)% for the isospinforbidden alpha decay of the 15.11 MeV state. From the 12.71 MeV state we find gamma transitions to the 10.3 and 7.65 MeV states. The relative gamma-ray branching ratios are (0.9(-0.5)(+0.6)) and (2.6(-1.2)(+1.6))%, respectively, with the remaining (96.6(-1.3)(+1.7))% of the gamma decays going to the bound states. Finally. we discuss the relation between the beta decay of N-12 and B-12 to states in C-12 and the gamma decay of the 15.11 MeV analog in C-12 to the same states. (C) 2009 Elsevier B.V. All rights reserved.
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