| 1. |
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| 2. |
- Dupont, E., et al.
(författare)
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Overview of the dissemination of n_TOF experimental data and resonance parameters
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- The n_TOF neutron time-of-flight facility at CERN is used for nuclear data measurements. The n_TOF Collaboration works closely with the Nuclear Reaction Data Centres (NRDC) network to disseminate the experimental data through the international EXFOR library. In addition, the Collaboration helps integrate the results in the evaluated library projects. The present contribution describes the dissemination status of n_TOF results, their impact on evaluated libraries and ongoing efforts to provide n_TOF resonance parameters in ENDF-6 format for further use by evaluation projects.
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| 3. |
- Tagliente, G., et al.
(författare)
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The n_TOF facility at CERN
- 2024
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Ingår i: 16<sup>th</sup> Varenna Conference on Nuclear Reaction Mechanisms (NRM2023). - : EDP Sciences. - 9782759891245
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Konferensbidrag (refereegranskat)abstract
- The neutron Time-of-Flight facility (n_TOF) is an innovative facility operative since 2001 at CERN, with three experimental areas. In this paper the n_TOF facility will be described, together with the upgrade of the facility during the Long Shutdown 2 at CERN. The main features of the detectors used for capture fission cross section measurements will be presented with perspectives for the future measurements.
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| 4. |
- Alcayne, V., et al.
(författare)
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A Segmented Total Energy Detector (sTED) optimized for (n,ϒ) cross-section measurements at n_TOF EAR2
- 2024
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Ingår i: Radiation Physics and Chemistry. - : Elsevier. - 0969-806X .- 1879-0895. ; 217
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Tidskriftsartikel (refereegranskat)abstract
- The neutron time-of-flight facility n_TOF at CERN is a spallation source dedicated to measurements of neutroninduced reaction cross-sections of interest in nuclear technologies, astrophysics, and other applications. Since 2014, Experimental ARea 2 (EAR2) is operational and delivers a neutron fluence of similar to 4 center dot 10(7) neutrons per nominal proton pulse, which is similar to 50 times higher than the one of Experimental ARea 1 (EAR1) of similar to 8 center dot 10(5) neutrons per pulse. The high neutron flux at EAR2 results in high counting rates in the detectors that challenged the previously existing capture detection systems. For this reason, a Segmented Total Energy Detector (sTED) has been developed to overcome the limitations in the detector's response, by reducing the active volume per module and by using a photo-multiplier (PMT) optimized for high counting rates. This paper presents the main characteristics of the sTED, including energy and time resolution, response to gamma-rays, and provides as well details of the use of the Pulse Height Weighting Technique (PHWT) with this detector. The sTED has been validated to perform neutron-capture cross-section measurements in EAR2 in the neutron energy range from thermal up to at least 400 keV. The detector has already been successfully used in several measurements at n_TOF EAR2.
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| 5. |
- Balibrea-Correa, J., et al.
(författare)
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First measurement of the 94Nb(n,γ) cross section at the CERN n_TOF facility
- 2023
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X. ; 279
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Tidskriftsartikel (refereegranskat)abstract
- One of the crucial ingredients for the improvement of stellar models is the accurate knowledge of neutron capture cross-sections for the different isotopes involved in the s-,r- and i- processes. These measurements can shed light on existing discrepancies between observed and predicted isotopic abundances and help to constrain the physical conditions where these reactions take place along different stages of stellar evolution.In the particular case of the radioactive 94Nb, the 94Nb(n,γ) cross-section could play a role in the determination of the s-process production of 94Mo in AGB stars, which presently cannot be reproduced by state-of-the-art stellar models. There are no previous 94Nb(n,γ) experimental data for the resolved and unresolved resonance regions mainly due to the difficulties in producing highquality samples and also due to limitations in conventional detection systems commonly used in time-of-flight experiments.Motivated by this situation, a first measurement of the 94Nb(n,γ) reaction was carried out at CERN n_TOF, thereby exploiting the high luminosity of the EAR2 area in combination with a new detection system of small-volume C6D6-detectors and a high quality 94Nb-sample. The latter was based on hyper-pure 93Nb material activated at the high-flux reactor of ILL-Grenoble. An innovative ring-configuration detection system in close geometry around the capture sample allowed us to significantly enhance the signal-to-background ratio. This set-up was supplemented with two conventional C6D6-detectors and a highresolution LaCl3(Ce)-detector, which will be employed for addressing reliably systematic effects and uncertainties.At the current status of the data analysis, 18 resonance in 94Nb+n have been observed for the first time in the neutron energy range from thermal up to 10 keV.
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| 6. |
- Domingo-Pardo, C., et al.
(författare)
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Advances and new ideas for neutron-capture astrophysics experiments at CERN n_TOF
- 2023
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Ingår i: European Physical Journal A. - : Springer. - 1434-6001 .- 1434-601X. ; 59:1
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Tidskriftsartikel (refereegranskat)abstract
- This article presents a few selected developments and future ideas related to the measurement of (n,γ) data of astrophysical interest at CERN n_TOF. The MC-aided analysis methodology for the use of low-efficiency radiation detectors in time-of-flight neutron-capture measurements is discussed, with particular emphasis on the systematic accuracy. Several recent instrumental advances are also presented, such as the development of total-energy detectors with γ-ray imaging capability for background suppression, and the development of an array of small-volume organic scintillators aimed at exploiting the high instantaneous neutron-flux of EAR2. Finally, astrophysics prospects related to the intermediate i neutron-capture process of nucleosynthesis are discussed in the context of the new NEAR activation area.
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| 7. |
- Domingo-Pardo, C., et al.
(författare)
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Compton imaging for enhanced sensitivity (n,gamma) cross section TOF experiments : Status and prospects
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- Radiative neutron-capture cross sections are of pivotal importance in many fields such as nucle-osynthesis studies or innovative reactor technologies. A large number of isotopes have been measured with high accuracy, but there are still a large number of relevant isotopes whose cross sections could not be experimentally determined yet, at least with sufficient accuracy and completeness, owing to limitations in detection techniques, sample production methods or in the facilities themselves. In the context of the HYMNS (High-sensitivitY Measurements of key stellar Nucleo-Synthesis reactions) project over the last six years we have developed a novel detection technique aimed at background suppression in radiative neutron-capture time-of-flight measurements. This new technique utilizes a complex detection set-up based on position-sensitive radiation-detectors deployed in a Compton-camera array configuration. The latter enables to implement gamma-ray imaging techniques, which help to disentangle true capture events arising from the sample under study and contaminant background events from the surroundings. A summary on the main developments is given in this contribution together with an update on recent experiments at CERN n_TOF and an outlook on future steps.
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| 8. |
- Domingo-Pardo, C., et al.
(författare)
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The neutron time-of-flight facility n_TOF at CERN Recent facility upgrades and detector developments
- 2023
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Ingår i: Journal of Physics, Conference Series. - : Institute of Physics (IOP). - 1742-6588 .- 1742-6596. ; 2586
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Tidskriftsartikel (refereegranskat)abstract
- Based on an idea by Carlo Rubbia, the n_TOF facility at CERN has been operating for over 20 years. It is a neutron spallation source, driven by the 20 GeV/c proton beam from the CERN PS accelerator. Neutrons in a very wide energy range (from GeV, down to sub-eV kinetic energy) are generated by a massive Lead spallation target feeding two experimental areas. EAR1, horizonal with respect to the proton beam direction is set at 185 meters from the spallation target. EAR2, on the vertical line from the spallation source, is placed at 20 m. Neutron energies for experiments are selected by the time-of-flight technique (hence the name n_TOF), while the long flight paths ensure a very good energy resolution. Over one hundred experiments have been performed by the n_TOF Collaboration at CERN, with applications ranging from nuclear astrophysics (synthesis of the heavy elements in stars, big bang nucleosynthesis, nuclear cosmo-chronology), to advanced nuclear technologies (nuclear data for applications, nuclear safety), as well as for basic nuclear science (reaction mechanisms, structure and decay of highly excited compound states). During the planned shutdown of the CERN accelerator complex between 2019 and 2021, the facility went through a substantial upgrade with a new target-moderator assembly, refurbishing of the neutron beam lines and experimental areas. An additional measuring and irradiation station (the NEAR Station) has been envisaged and its capabilities for performing material test studies and new physics opportunities are presently explored. An overview of the facility and of the activities performed at CERN is presented in this contribution, with a particular emphasis on the most relevant experiments for nuclear astrophysics.
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| 9. |
- Lerendegui-Marco, J., et al.
(författare)
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New detection systems for an enhanced sensitivity in key stellar (n,γ) measurements
- 2023
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X. ; 279
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Tidskriftsartikel (refereegranskat)abstract
- Neutron capture cross-section measurements are fundamental in the study of astrophysical phenomena, such as the slow neutron capture (s-) process of nucleosynthesis operating in red-giant and massive stars. However, neutron capture measurements via the time-of-flight (TOF) technique on key s-process nuclei are often challenging. Difficulties arise from the limited mass (∼mg) available and the high sample-related background in the case of the unstable s-process branching points. Measurements on neutron magic nuclei, that act as s-process bottlenecks, are affected by low (n,γ) cross sections and a dominant neutron scattering background. Overcoming these experimental challenges requires the combination of facilities with high instantaneous flux, such as n_TOFEAR2, with detection systems with an enhanced detection sensitivity and high counting rate capabilities. This contribution reviews some of the latest detector developments in detection systems for (n,γ) measurements at n_TOF, such as i-TED, an innovative detection system which exploits the Compton imaging technique to reduce the dominant neutron scattering background and s-TED, a highly segmented total energy detector intended for high flux facilities. The discussion will be illustrated with results of the first measurement of key the s-process branching-point reaction 79Se(n,γ).
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| 10. |
- Lerendegui-Marco, J., et al.
(författare)
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New perspectives for neutron capture measurements in the upgraded CERN-n_TOF Facility
- 2023
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Ingår i: 15th International Conference on Nuclear Data for Science and Technology, ND2022. - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- The n_TOF facility has just undergone in 2021 a major upgrade with the installation of its third generation spallation target that has been designed to optimize the performance of the two n_TOF time-of-flight lines. This contribution describes the key features and limitations for capture measurements in the two beam lines prior to the target upgrade and presents first results of (n,gamma) measurements carried out as part of the commissioning of the upgraded facility. In particular, the energy resolution, a key factor for both increasing the signal-to background ratio and obtaining accurate resonance parameters, has been clearly improved for the 20 m long vertical beam-line with the new target design while keeping the remarkably high resolution of the long beamline n_TOF-EAR1. The improvements in the n_TOF neutron beam-lines need to be accompanied by improvements in the instrumentation. A review is given on recent detector R&D projects aimed at tackling the existing challenges and further improving the capabilities of this facility.
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| 11. |
- Massimi, C., et al.
(författare)
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Neutron-induced cross section measurements
- 2023
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X. ; 279
-
Tidskriftsartikel (refereegranskat)abstract
- Neutron-induced cross sections represent the main nuclear input to models of stellar and Big-Bang nucleosynthesis. While (n,γ) reactions are relevant for the formation of elements heavier than iron, (n,p) and (n,α) reactions can play an important role in specific cases. The time-of-flight method is routinely used at n_TOF to experimentally determine the cross section data. In addition, recent upgrades of the facility will allow the use of activation techniques as well, possibly opening the way to a systematic study of neutron interaction with radioactive isotopes. In the last 20 years n_TOF has provided a large amount of experimental data for Nuclear Astrophysics. Our plan is to carry on challenging measurements and produce nuclear data in the next decades as well.
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| 12. |
- Mastromarco, M., et al.
(författare)
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Measurement of the Gd-160(n, gamma) cross section at n_TOF and its medical implications
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
-
Konferensbidrag (refereegranskat)abstract
- Neutron-capture reactions on gadolinium isotopes play an important role in several fields of physics, in particular in nuclear Astrophysics for the understanding of the nucleosynthesis of heavy elements (beyond iron) in stars via the s- and r-processes [1] and in nuclear technology. Another important application of gadolinium is linked to the production of terbium, that offers a set of clinically interesting isotopes for theranostics, characterized by complementary physical decay characteristics. In particular, the low -energy beta(-) emitter terbium-161 is very similar to lutetium-177 in terms of half-life (6.89 d), beta(-) - energy and chemical properties. Being a significant emitter of conversion/Auger electrons, greater therapeutic effect can therefore be expected in comparison to Lu-177 [2, 3]. For this reason, in the last decade, the study of the neutron capture reaction Gd-160(n,,gamma)(161) Gd and the subsequent beta(-) - decay in terbium-161 is getting particular attention. As the nuclear data on the Gd-160 neutron capture reaction are quite scarce and inconsistent, a new measurement of the capture cross section of Gd-160 at the CERN neutron Time -Of-Flight facilty was performed in order to provide high resolution, high -accuracy data on this important reaction, in the energy range from thermal to hundreds of keV. In this contribution, the preliminary results of the n_TOF measurement are presented.
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| 13. |
- Patronis, N., et al.
(författare)
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Status report of the n_TOF facility after the 2nd CERN long shutdown period
- 2023
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Ingår i: EPJ TECHNIQUES AND INSTRUMENTATION. - : Springer Nature. - 2195-7045. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- During the second long shutdown period of the CERN accelerator complex (LS2, 2019-2021), several upgrade activities took place at the n_TOF facility. The most important have been the replacement of the spallation target with a next generation nitrogen-cooled lead target. Additionally, a new experimental area, at a very short distance from the target assembly (the NEAR Station) was established. In this paper, the core commissioning actions of the new installations are described. The improvement in the n_TOF infrastructure was accompanied by several detector development projects. All these upgrade actions are discussed, focusing mostly on the future perspectives of the n_TOF facility. Furthermore, some indicative current and future measurements are briefly reported.
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| 14. |
- Mucciola, R., et al.
(författare)
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Neutron capture and total cross-section measurements on Mo-94'95'96 at n_TOF and GELINA
- 2023
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Ingår i: 15th International Conference on Nuclear Data for Science and Technology, ND2022. - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- Capture and total cross section measurements for 94'95'96 MO have been performed at the neutron time -of-flight facilities, n_TOF at CERN and GELINA at JRC-Geel. The measurements were performed using isotopically enriched samples with an enrichment above 95% for each of the (94'95'96)M0 isotopes. The capture measurements were performed at n_TOF using C6D6 detectors and a new sTED detector. The transmission measurements were performed at a 10 m station of GELINA using a Li-6 glass neutron detector. Preliminary results of these measurements are presented.
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| 15. |
- Alcayne, V., et al.
(författare)
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A segmented total energy detector (sTED) for (n, gamma) cross section measurements at n_TOF EAR2
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
-
Konferensbidrag (refereegranskat)abstract
- The neutron time-of-flight facility n_TOF is characterised by its high instantaneous neutron intensity, high resolution and broad neutron energy spectra, specially conceived for neutron-induced reaction cross section measurements. Two Time-Of-Flight (TOR) experimental areas are available at the facility: experimental area 1 (EAR1), located at the end of the 185 m horizontal flight path from the spallation target, and experimental area 2 (EAR2), placed at 20 m from the target in the vertical direction. The neutron fluence in EAR2 is similar to 300 times more intense than in EARL in the relevant time-of-flight window. EAR2 was designed to carry out challenging cross-section measurements with low mass samples (approximately 1 mg), reactions with small cross-sections or/and highly radioactive samples. The high instantaneous fluence of EAR2 results in high counting rates that challenge the existing capture systems. Therefore, the sTED detector has been designed to mitigate these effects. In 2021, a dedicated campaign was done validating the performance of the detector up to at least 300 keV neutron energy. After this campaign, the detector has been used to perform various capture cross section measurements at n_TOF EAR2.
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| 16. |
- Garcia-Infantes, F., et al.
(författare)
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First high resolution measurement of neutron capture resonances in Yb-176 at the n_TOF CERN facility.
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
-
Konferensbidrag (refereegranskat)abstract
- Several international agencies recommend the study of new routes and new facilities for producing radioisotopes with application to nuclear medicine. Lu-177 is a versatile radioisotope used for therapy and diagnosis (theranostics) of cancer with good success in neuroendocrine tumours that is being studied to be applied to a wider range of tumours. Lu-177 is produced in few nuclear reactors mainly by the neutron capture on Lu-176. However, it could be produced at high -intensity accelerator-based neutron facilities. The energy of the neutrons in accelerator-based neutron facilities is higher than in thermal reactors. Thus, experimental data on the Yb-176(n,(sic)) cross-section in the eV and keV region are mandatory to calculate accurately the production of Yb-177, which beta decays to 177Lu. At present, there are not experimental data available from thermal to 3 keV of the Yb-176(n,(sic)) cross-section. In addition, there is no data in the resolved resonance region (RRR). This contribution shows the first results of the Yb-176 capture measurement performed at the n_TOF facility at CERN.
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| 17. |
- Pavon-Rodriguez, J. A., et al.
(författare)
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Characterisation of the n_TOF 20 m beam line at CERN with the new spallation target
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
-
Konferensbidrag (refereegranskat)abstract
- The n_TOF facility hosts CERN's pulsed neutron source, comprising two beam lines of different flight paths and one activation station. It is based on a proton beam delivered by the PS accelerator impinging on a lead spallation target. During Long Shutdown 2 (LS2) at CERN (2019-2021), a major upgrade of the spallation target was carried out in order to optimize the performances of the neutron beam. Therefore, the characteristics of n_TOF two experimental areas were investigated in detail. In this work, the focus is on the second experimental area (EAR2), located 20 m above the spallation target. Preliminary results of the neutron energy distribution and beam line energy resolution are presented, compared to previous experimental campaigns and Monte Carlo simulations with the FLUKA code. Moreover, preliminary results of the spatial beam profile measurements are shown.
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| 18. |
- Stamati, M. E., et al.
(författare)
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The n_TOF NEAR Station Commissioning and first physics case
- 2023
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Ingår i: 15TH INTERNATIONAL CONFERENCE ON NUCLEAR DATA FOR SCIENCE AND TECHNOLOGY, ND2022. - : EDP Sciences.
-
Konferensbidrag (refereegranskat)abstract
- The NEAR Station is a new experimental area developed at the n_TOF Facility at CERN. The activation station of NEAR underwent a characterization of the beam following the installation of the new n_TOF Spallation Target. The commissioning of the neutron beam comprises a set of simulations made with the FLUKA code and experimental verification. The experimental determination of the neutron spectrum was made using activation techniques with three separate set-ups. Two set-ups were based on the Multi-foil Activation technique (MAM-1 and MAM-2), and the third set-up relied on the process of neutron moderation and activation of a single material (ANTILoPE). The three set-ups are presented. Also the present plans and future perspectives of the activation station of NEAR are discussed.
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| 19. |
- Esposito, B., et al.
(författare)
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Progress of Design and Development for the ITER Radial Neutron Camera
- 2022
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Ingår i: Journal of fusion energy. - : Springer. - 0164-0313 .- 1572-9591. ; 41:2
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Tidskriftsartikel (refereegranskat)abstract
- The paper presents an overview of the design status of the Radial Neutron Camera (RNC), that, together with the Vertical Neutron Camera, will provide, through reconstruction techniques applied to the measured line-integrated neutron fluxes, the time resolved measurement of the ITER neutron and alpha-source profile (i.e. neutron emissivity, neutrons emitted per unit time and volume). The RNC is composed of two subsystems, the In-Port RNC and Ex-Port RNC located, respectively, inside and outside the Plug of Equatorial Port #01. The In-Port subsystem is in a more advanced design stage since it has recently undergone the Final Design Review in the ITER procurement process. The paper describes the diagnostic layout, the interfaces, the measurement capabilities and the main challenges in its realization. Prototyping and testing of neutron detectors and electronics components were carried out and led to the choice of the component solutions that can match the environmental and operational constraints in terms radiation hardness, high temperature and electromagnetic compatibility. The performance of the RNC in terms of neutron emissivity measurement capability was assessed through 1D and 2D reconstruction analysis. It is proven that the neutron emissivity can be reconstructed in real-time within the measurement requirements: 10% accuracy, 10 ms time resolution and a/10 (a = plasma minor radius) space resolution.
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| 20. |
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| 21. |
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| 22. |
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| 23. |
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| 24. |
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| 25. |
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| 26. |
- Mazzone, P., et al.
(författare)
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Experimental new automatic tools for robotic stereotactic neurosurgery : towards "no hands" procedure of leads implantation into a brain target
- 2016
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Ingår i: Journal of neural transmission. - : Springer Science and Business Media LLC. - 0300-9564 .- 1435-1463. ; 123:7, s. 737-750
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Tidskriftsartikel (refereegranskat)abstract
- The use of robotics in neurosurgery and, particularly, in stereotactic neurosurgery, is becoming more and more adopted because of the great advantages that it offers. Robotic manipulators easily allow to achieve great precision, reliability, and rapidity in the positioning of surgical instruments or devices in the brain. The aim of this work was to experimentally verify a fully automatic "no hands" surgical procedure. The integration of neuroimaging to data for planning the surgery, followed by application of new specific surgical tools, permitted the realization of a fully automated robotic implantation of leads in brain targets. An anthropomorphic commercial manipulator was utilized. In a preliminary phase, a software to plan surgery was developed, and the surgical tools were tested first during a simulation and then on a skull mock-up. In such a way, several tools were developed and tested, and the basis for an innovative surgical procedure arose. The final experimentation was carried out on anesthetized "large white" pigs. The determination of stereotactic parameters for the correct planning to reach the intended target was performed with the same technique currently employed in human stereotactic neurosurgery, and the robotic system revealed to be reliable and precise in reaching the target. The results of this work strengthen the possibility that a neurosurgeon may be substituted by a machine, and may represent the beginning of a new approach in the current clinical practice. Moreover, this possibility may have a great impact not only on stereotactic functional procedures but also on the entire domain of neurosurgery.
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| 27. |
- Beyder, Arthur, et al.
(författare)
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Loss-of-Function of the Voltage-Gated Sodium Channel Na(V)1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome
- 2014
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Ingår i: Gastroenterology. - : Elsevier BV. - 0016-5085 .- 1528-0012. ; 146:7, s. 1659-1668
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND & AIMS: SCN5A encodes the a-subunit of the voltage-gated sodium channel Na(V)1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the function of Na(V)1.5. METHODS: We performed genotype analysis of SCN5A in 584 persons with IBS and 1380 without IBS (controls). Mutant forms of SCN5A were expressed in human embryonic kidney-293 cells, and functions were assessed by voltage clamp analysis. A genome-wide association study was analyzed for an association signal for the SCN5A gene, and replicated in 1745 patients in 4 independent cohorts of IBS patients and controls. RESULTS: Missense mutations were found in SCN5A in 13 of 584 patients (2.2%, probands). Diarrhea-predominant IBS was the most prevalent form of IBS in the overall study population (25%). However, a greater percentage of individuals with SCN5A mutations had constipation-predominant IBS (31%) than diarrhea-predominant IBS (10%; P < .05). Electrophysiologic analysis showed that 10 of 13 detected mutations disrupted Na(V)1.5 function (9 loss-of-function and 1 gain-of-function function). The p. A997T-Na(V)1.5 had the greatest effect in reducing Na(V)1.5 function. Incubation of cells that expressed this variant with mexiletine restored their sodium current and administration of mexiletine to 1 carrier of this mutation (who had constipation-predominant IBS) normalized their bowel habits. In the genome-wide association study and 4 replicated studies, the SCN5A locus was strongly associated with IBS. CONCLUSIONS: About 2% of patients with IBS carry mutations in SCN5A. Most of these are loss-of-function mutations that disrupt Na(V)1.5 channel function. These findings provide a new pathogenic mechanism for IBS and possible treatment options.
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| 28. |
- Beyder, Arthur, et al.
(författare)
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Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.
- 2014
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Ingår i: Gastroenterology. - : Elsevier BV. - 0016-5085 .- 1528-0012. ; 146:7
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND & AIMS: SCN5A encodes the α-subunit of the voltage-gated sodium channel NaV1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the function of NaV1.5.METHODS: We performed genotype analysis of SCN5A in 584 persons with IBS and 1380 without IBS (controls). Mutant forms of SCN5A were expressed in human embryonic kidney-293 cells, and functions were assessed by voltage clamp analysis. A genome-wide association study was analyzed for an association signal for the SCN5A gene, and replicated in 1745 patients in 4 independent cohorts of IBS patients and controls.RESULTS: Missense mutations were found in SCN5A in 13 of 584 patients (2.2%, probands). Diarrhea-predominant IBS was the most prevalent form of IBS in the overall study population (25%). However, a greater percentage of individuals with SCN5A mutations had constipation-predominant IBS (31%) than diarrhea-predominant IBS (10%; P < .05). Electrophysiologic analysis showed that 10 of 13 detected mutations disrupted NaV1.5 function (9 loss-of-function and 1 gain-of-function function). The p. A997T-NaV1.5 had the greatest effect in reducing NaV1.5 function. Incubation of cells that expressed this variant with mexiletine restored their sodium current and administration of mexiletine to 1 carrier of this mutation (who had constipation-predominant IBS) normalized their bowel habits. In the genome-wide association study and 4 replicated studies, the SCN5A locus was strongly associated with IBS.CONCLUSIONS: About 2% of patients with IBS carry mutations in SCN5A. Most of these are loss-of-function mutations that disrupt NaV1.5 channel function. These findings provide a new pathogenic mechanism for IBS and possible treatment options.
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| 29. |
- Bloomfield, Madeleine, et al.
(författare)
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European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
- 2024
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Ingår i: BMJ OPEN. - 2044-6055. ; 14:6
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles.Methods and analysis EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms.Ethics and dissemination To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).
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| 30. |
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| 31. |
- Jonsson, Viktor, et al.
(författare)
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Photoelectron dispersion in metallic and insulating thin films
- 2021
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Ingår i: Physical Review Research. - : American Physical Society. - 2643-1564. ; 3:3
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Tidskriftsartikel (refereegranskat)abstract
- The underlying mechanism behind the metal-to-insulator transition in is still a topic of intense debate. The two leading theoretical interpretations associate the transition with either electron-lattice or electron-electron correlations. Novel experimental results are required to converge towards one of the two scenarios. Here we report on a temperature-dependent angle-resolved photoelectron study of thin films across the metal-to-insulator transition. The obtained experimental results are compared to density functional theory calculations. We find an overall energy shift and compression of the electronic band structure across the transition while the overall band topology is conserved. The results demonstrate the importance of electron-electron correlations in establishing the insulating state.
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| 32. |
- Kramer, K. P., et al.
(författare)
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Revealing the Orbital Composition of Heavy Fermion Quasiparticles in CeRu 2 Si 2
- 2023
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Ingår i: Journal of the Physical Society of Japan. - 1347-4073 .- 0031-9015. ; 92:10
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Tidskriftsartikel (refereegranskat)abstract
- We present a resonant angle-resolved photoemission spectroscopy (ARPES) study of the electronic band structure and heavy fermion quasiparticles in CeRu2Si2. Using light polarization analysis, considerations of the crystal field environment and hybridization between conduction and f electronic states, we identify the d-electronic orbital character of conduction bands crossing the Fermi level. Resonant ARPES spectra suggest that the localized Ce f states hybridize with eg and t2g states around the zone center. In this fashion, we reveal the orbital structure of the heavy fermion quasiparticles in CeRu2Si2 and discuss its implications for metamagnetism and superconductivity in the related compound CeCu2Si2
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| 33. |
- Lochmueller, Hanns, et al.
(författare)
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The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop : Milan, Italy, January 19-20, 2018
- 2019
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Ingår i: JOURNAL OF NEUROMUSCULAR DISEASES. - : IOS Press. - 2214-3599 .- 2214-3602. ; 6:1, s. 161-172
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Tidskriftsartikel (refereegranskat)abstract
- In the era of patient-centered medicine, shared decision-making (SDM) - in which healthcare professionals and patients exchange information and preferences and jointly reach a decision - has emerged as the gold standard model for the provision of formal healthcare. Indeed, in many geographical settings, patients are frequently invited to participate in choices concerning the design and delivery of their medical management. From a clinical perspective, benefits of this type of patient involvement encompass, for example, enhanced treatment satisfaction, improved medical compliance, better health outcomes, and maintained or promoted quality of life. Yet, although the theory and enactment of SDM in healthcare are well-described in the literature [1-3], comparatively less attention has been devoted to contextualizing questions relating to if, when, and how to include patients in decisions within medical research. In this context, patient involvement would be expected to be potentially relevant for and applicable to a wide range of activities and processes, from the identification of research priorities and development of grant applications, to the design of patient information and consent procedures, formulation of interventions, identification and recruitment of study sample populations, feasibility of a clinical trial, identification, selection, and specification of endpoints and outcomes in clinical trials and observational studies, data collection and analysis, and dissemination of results. To this end, 45 clinicians, healthcare professionals, researchers, patients, caregivers, and representatives from regulatory authorities and pharmaceutical companies from 15 different countries met to discuss the level of involvement of patients with neuromuscular diseases, specifically in the following settings of medical research for neuromuscular diseases: i) registries and biobanks; ii) clinical trials; and iii) regulatory processes. In this report, we present summaries of the talks that were given during the workshop, as well as discussion outcomes from the three topic areas listed above.
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| 34. |
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| 35. |
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| 36. |
- Nocerino, E., et al.
(författare)
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Q-dependent electron-phonon coupling induced phonon softening and non-conventional critical behavior in the CDW superconductor LaPt 2 Si 2
- 2023
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Ingår i: Journal of Science: Advanced Materials and Devices. - 2468-2284 .- 2468-2179. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- This paper reports the first experimental observation of phonons and their softening on single crystalline LaPt2Si2 via inelastic neutron scattering. From the temperature dependence of the phonon frequency in close proximity to the charge density wave (CDW) q-vector, we obtain a CDW transition temperature of TCDW = 230 K and a critical exponent β = 0.28 ± 0.03. This value is suggestive of a non-conventional critical behavior for the CDW phase transition in LaPt2Si2, compatible with a scenario of CDW discommensuration (DC). The DC would be caused by the existence of two CDWs in this material, propagating separately in the non equivalent (Si1–Pt2–Si1) and (Pt1–Si2–Pt1) layers, respectively, with transition temperatures TCDW−1 = 230 K and TCDW−2 = 110 K. A strong q-dependence of the electron-phonon coupling has been identified as the driving mechanism for the CDW transition at TCDW−1 = 230 K while a CDW with 3-dimensional character, and Fermi surface quasi-nesting as a driving mechanism, is suggested for the transition at TCDW−2 = 110 K. Our results clarify some aspects of the CDW transition in LaPt2Si2 which have been so far misinterpreted by both theoretical predictions and experimental observations and give direct insight into its actual temperature dependence.
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| 37. |
- Nocerino, Elisabetta, et al.
(författare)
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Q-dependent electron-phonon coupling induced phonon softening and non-conventional critical behavior in the CDW superconductor LaPt2Si2
- 2023
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Ingår i: Journal of Science: Advanced Materials and Devices. - : Elsevier BV. - 2468-2284 .- 2468-2179. ; 8:4
-
Tidskriftsartikel (refereegranskat)abstract
- This paper reports the first experimental observation of phonons and their softening on single crystalline LaPt2Si2 via inelastic neutron scattering. From the temperature dependence of the phonon frequency in close proximity to the charge density wave (CDW) q-vector, we obtain a CDW transition temperature of TCDW = 230 K and a critical exponent β = 0.28 ± 0.03. This value is suggestive of a non-conventional critical behavior for the CDW phase transition in LaPt2Si2, compatible with a scenario of CDW discommensuration (DC). The DC would be caused by the existence of two CDWs in this material, propagating separately in the non equivalent (Si1–Pt2–Si1) and (Pt1–Si2–Pt1) layers, respectively, with transition temperatures TCDW−1 = 230 K and TCDW−2 = 110 K. A strong q-dependence of the electron-phonon coupling has been identified as the driving mechanism for the CDW transition at TCDW−1 = 230 K while a CDW with 3-dimensional character, and Fermi surface quasi-nesting as a driving mechanism, is suggested for the transition at TCDW−2 = 110 K. Our results clarify some aspects of the CDW transition in LaPt2Si2 which have been so far misinterpreted by both theoretical predictions and experimental observations and give direct insight into its actual temperature dependence.
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| 38. |
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| 39. |
- Riva, M., et al.
(författare)
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High-Priority Prototype Testing in Support of System-Level Design Development of the ITER Radial Neutron Camera
- 2018
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Ingår i: IEEE Transactions on Plasma Science. - : IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC. - 0093-3813 .- 1939-9375. ; 46:5, s. 1291-1297
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the high-priority testing activities supporting the ITER radial neutron camera (RNC) design, performed by a consortium of European institutes within a framework contract placed by fusion for energy, the ITER European Domestic Agency. The main role of the RNC is to measure the uncollided 14- and 2.5-MeV neutrons from deuterium-tritium and deuterium-deuterium fusion reactions through an array of flux monitors/spectrometers located in collimated lines of sight viewing the plasma through the ITER equatorial port plug #1. The line-integrated neutron fluxes will be used to evaluate, through reconstruction techniques, the radial profile of the neutrons emitted per unit time and volume (neutron emissivity) and, therefore, the neutron yield and the alpha particles' birth profile. The activity of high-priority testing is dedicated to the preparation and the design of experimental test environment, the conduction of appropriate tests and reporting of test results for the high-priority prototypes, clarifying or verifying the expected key function and system behavior, and enhancing learning on specific issues (potential showstoppers).
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| 40. |
- Simutis, Gediminas, et al.
(författare)
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Single-domain stripe order in a high-temperature superconductor
- 2022
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Ingår i: Communications Physics. - : Springer Science and Business Media LLC. - 2399-3650. ; 5:1
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Tidskriftsartikel (refereegranskat)abstract
- The coupling of spin, charge and lattice degrees of freedom results in the emergence of novel states of matter across many classes of strongly correlated electron materials. A model example is unconventional superconductivity, which is widely believed to arise from the coupling of electrons via spin excitations. In cuprate high-temperature superconductors, the interplay of charge and spin degrees of freedom is also reflected in a zoo of charge and spin-density wave orders that are intertwined with superconductivity. A key question is whether the different types of density waves merely coexist or are indeed directly coupled. Here we profit from a neutron scattering technique with superior beam-focusing that allows us to probe the subtle spin-density wave order in the prototypical high-temperature superconductor La1.88Sr0.12CuO4 under applied uniaxial pressure to demonstrate that the two density waves respond to the external tuning parameter in the same manner. Our result shows that suitable models for high-temperature superconductivity must equally account for charge and spin degrees of freedom via uniaxial charge-spin stripe fluctuations.
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| 41. |
- Tisch, Nathalie, et al.
(författare)
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Caspase-8 modulates physiological and pathological angiogenesis during retina development
- 2019
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Ingår i: Journal of Clinical Investigation. - : AMER SOC CLINICAL INVESTIGATION INC. - 0021-9738 .- 1558-8238. ; 129:12, s. 5092-5107
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Tidskriftsartikel (refereegranskat)abstract
- During developmental angiogenesis, blood vessels grow and remodel to ultimately build a hierarchical vascular network. Whether, how, cell death signaling molecules contribute to blood vessel formation is still not well understood. Caspase-8 (Casp-8), a key protease in the extrinsic cell death-signaling pathway, regulates cell death via both apoptosis and necroptosis. Here, we show that expression of Casp-8 in endothelial cells (ECs) is required for proper postnatal retina angiogenesis. EC-specific Casp-8-KO pups (Casp-8(ECKO)) showed reduced retina angiogenesis, as the loss of Casp-8 reduced EC proliferation, sprouting, and migration independently of its cell death function. Instead, the loss of Casp-8 caused hyperactivation of p38 MAPK downstream of receptor-interacting serine/threonine protein kinase 3 (RIPK3) and destabilization of vascular endothelial cadherin (VE-cadherin) at EC junctions. In a mouse model of oxygen-induced retinopathy (OIR) resembling retinopathy of prematurity (ROP), loss of Casp-8 in ECs was beneficial, as pathological neovascularization was reduced in Casp-8ECKO pups. Taking these data together, we show that Casp-8 acts in a cell death-independent manner in ECs to regulate the formation of the retina vasculature and that Casp-8 in ECs is mechanistically involved in the pathophysiology of ROP.
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| 42. |
- von Arx, Karin, 1993, et al.
(författare)
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Fate of charge order in overdoped La-based cuprates
- 2023
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Ingår i: NPJ QUANTUM MATERIALS. - : Springer Nature. - 2397-4648. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- In high-temperature cuprate superconductors, stripe order refers broadly to a coupled spin and charge modulation with a commensuration of eight and four lattice units, respectively. How this stripe order evolves across optimal doping remains a controversial question. Here we present a systematic resonant inelastic x-ray scattering study of weak charge correlations in La2-xSrxCuO4 and La1.8-xEu0.2SrxCuO4. Ultra high energy resolution experiments demonstrate the importance of the separation of inelastic and elastic scattering processes. Long-range temperature-dependent stripe order is only found below optimal doping. At higher doping, short-range temperature-independent correlations are present up to the highest doping measured. This transformation is distinct from and preempts the pseudogap critical doping. We argue that the doping and temperature-independent short-range correlations originate from unresolved electron-phonon coupling that broadly peaks at the stripe ordering vector. In La2-xSrxCuO4, long-range static stripe order vanishes around optimal doping and we discuss both quantum critical and crossover scenarios.
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| 43. |
- Wang, Q., et al.
(författare)
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Uniaxial pressure induced stripe order rotation in La 1.88 Sr 0.12 CuO 4
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723 .- 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Static stripe order is detrimental to superconductivity. Yet, it has been proposed that transverse stripe fluctuations may enhance the inter-stripe Josephson coupling and thus promote superconductivity. Direct experimental studies of stripe dynamics, however, remain difficult. From a strong-coupling perspective, transverse stripe fluctuations are realized in the form of dynamic “kinks”—sideways shifting stripe sections. Here, we show how modest uniaxial pressure tuning reorganizes directional kink alignment. Our starting point is La1.88Sr0.12CuO4 where transverse kink ordering results in a rotation of stripe order away from the crystal axis. Application of mild uniaxial pressure changes the ordering pattern and pins the stripe order to the crystal axis. This reordering occurs at a much weaker pressure than that to detwin the stripe domains and suggests a rather weak transverse stripe stiffness. Weak spatial stiffness and transverse quantum fluctuations are likely key prerequisites for stripes to coexist with superconductivity.
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| 44. |
- Wang, Qisi, et al.
(författare)
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Uniaxial pressure induced stripe order rotation in La1.88Sr0.12CuO4
- 2022
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 13:1
-
Tidskriftsartikel (refereegranskat)abstract
- Static stripe order is detrimental to superconductivity. Yet, it has been proposed that transverse stripe fluctuations may enhance the inter-stripe Josephson coupling and thus promote superconductivity. Direct experimental studies of stripe dynamics, however, remain difficult. From a strong-coupling perspective, transverse stripe fluctuations are realized in the form of dynamic "kinks"-sideways shifting stripe sections. Here, we show how modest uniaxial pressure tuning reorganizes directional kink alignment. Our starting point is La1.88Sr0.12CuO4 where transverse kink ordering results in a rotation of stripe order away from the crystal axis. Application of mild uniaxial pressure changes the ordering pattern and pins the stripe order to the crystal axis. This reordering occurs at a much weaker pressure than that to detwin the stripe domains and suggests a rather weak transverse stripe stiffness. Weak spatial stiffness and transverse quantum fluctuations are likely key prerequisites for stripes to coexist with superconductivity. Transverse stripe order fluctuations may promote superconductivity, but experimental verifications remain difficult. Here, the authors report that a mild uniaxial pressure changes the ordering pattern and pins the stripe order to the crystal axis in La1.88Sr0.12CuO4.
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| 45. |
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