| 1. |
- Böhm, Johann, et al.
(författare)
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
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Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
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Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
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| 2. |
- Fugier, Charlotte, et al.
(författare)
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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
- 2011
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Ingår i: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 17:6, s. 720-725
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) and myotonic dystrophy of type 1 (DM1) or of type 2 (DM2) are caused by the expression of mutant RNAs containing expanded CUG or CCUG repeats, respectively. These mutant RNAs sequester the splicing regulator Muscleblind-like-1 (MBNL1), resulting in specific misregulation of the alternative splicing of other pre-mRNAs. We found that alternative splicing of the bridging integrator-1 (BIN1) pre-mRNA is altered in skeletal muscle samples of people with CDM1, DM1 and DM2. BIN1 is involved in tubular invaginations of membranes and is required for the biogenesis of muscle T tubules, which are specialized skeletal muscle membrane structures essential for excitation-contraction coupling. Mutations in the BIN1 gene cause centronuclear myopathy, which shares some histopathological features with myotonic dystrophy. We found that MBNL1 binds the BIN1 pre-mRNA and regulates its alternative splicing. BIN1 missplicing results in expression of an inactive form of BIN1 lacking phosphatidylinositol 5-phosphate-binding and membrane-tubulating activities. Consistent with a defect of BIN1, muscle T tubules are altered in people with myotonic dystrophy, and membrane structures are restored upon expression of the normal splicing form of BIN1 in muscle cells of such individuals. Finally, reproducing BIN1 splicing alteration in mice is sufficient to promote T tubule alterations and muscle weakness, a predominant feature of myotonic dystrophy.
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| 3. |
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| 4. |
- Aad, G., et al.
(författare)
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Commissioning of the ATLAS Muon Spectrometer with cosmic rays
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 875-916
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS detector at the Large Hadron Collider has collected several hundred million cosmic ray events during 2008 and 2009. These data were used to commission the Muon Spectrometer and to study the performance of the trigger and tracking chambers, their alignment, the detector control system, the data acquisition and the analysis programs. We present the performance in the relevant parameters that determine the quality of the muon measurement. We discuss the single element efficiency, resolution and noise rates, the calibration method of the detector response and of the alignment system, the track reconstruction efficiency and the momentum measurement. The results show that the detector is close to the design performance and that the Muon Spectrometer is ready to detect muons produced in high energy proton-proton collisions.
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| 5. |
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| 6. |
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| 7. |
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| 8. |
- Aad, G., et al.
(författare)
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Readiness of the ATLAS Tile Calorimeter for LHC collisions
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:4, s. 1193-1236
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Tidskriftsartikel (refereegranskat)abstract
- The Tile hadronic calorimeter of the ATLAS detector has undergone extensive testing in the experimental hall since its installation in late 2005. The readout, control and calibration systems have been fully operational since 2007 and the detector has successfully collected data from the LHC single beams in 2008 and first collisions in 2009. This paper gives an overview of the Tile Calorimeter performance as measured using random triggers, calibration data, data from cosmic ray muons and single beam data. The detector operation status, noise characteristics and performance of the calibration systems are presented, as well as the validation of the timing and energy calibration carried out with minimum ionising cosmic ray muons data. The calibration systems' precision is well below the design value of 1%. The determination of the global energy scale was performed with an uncertainty of 4%.
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| 9. |
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| 10. |
- Aad, G., et al.
(författare)
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Studies of the performance of the ATLAS detector using cosmic-ray muons
- 2011
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:3
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Tidskriftsartikel (refereegranskat)abstract
- Muons from cosmic-ray interactions in the atmosphere provide a high-statistics source of particles that can be used to study the performance and calibration of the ATLAS detector. Cosmic-ray muons can penetrate to the cavern and deposit energy in all detector subsystems. Such events have played an important role in the commissioning of the detector since the start of the installation phase in 2005 and were particularly important for understanding the detector performance in the time prior to the arrival of the first LHC beams. Global cosmic-ray runs were undertaken in both 2008 and 2009 and these data have been used through to the early phases of collision data-taking as a tool for calibration, alignment and detector monitoring. These large datasets have also been used for detector performance studies, including investigations that rely on the combined performance of different subsystems. This paper presents the results of performance studies related to combined tracking, lepton identification and the reconstruction of jets and missing transverse energy. Results are compared to expectations based on a cosmic-ray event generator and a full simulation of the detector response.
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| 11. |
- Aad, G., et al.
(författare)
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The ATLAS Inner Detector commissioning and calibration
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 787-821
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS Inner Detector is a composite tracking system consisting of silicon pixels, silicon strips and straw tubes in a 2 T magnetic field. Its installation was completed in August 2008 and the detector took part in data-taking with single LHC beams and cosmic rays. The initial detector operation, hardware commissioning and in-situ calibrations are described. Tracking performance has been measured with 7.6 million cosmic-ray events, collected using a tracking trigger and reconstructed with modular pattern-recognition and fitting software. The intrinsic hit efficiency and tracking trigger efficiencies are close to 100%. Lorentz angle measurements for both electrons and holes, specific energy-loss calibration and transition radiation turn-on measurements have been performed. Different alignment techniques have been used to reconstruct the detector geometry. After the initial alignment, a transverse impact parameter resolution of 22.1 +/- 0.9 mu m and a relative momentum resolution sigma (p) /p=(4.83 +/- 0.16)x10(-4) GeV(-1)xp (T) have been measured for high momentum tracks.
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| 12. |
- Aad, G., et al.
(författare)
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The ATLAS Simulation Infrastructure
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 823-874
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Tidskriftsartikel (refereegranskat)abstract
- The simulation software for the ATLAS Experiment at the Large Hadron Collider is being used for large-scale production of events on the LHC Computing Grid. This simulation requires many components, from the generators that simulate particle collisions, through packages simulating the response of the various detectors and triggers. All of these components come together under the ATLAS simulation infrastructure. In this paper, that infrastructure is discussed, including that supporting the detector description, interfacing the event generation, and combining the GEANT4 simulation of the response of the individual detectors. Also described are the tools allowing the software validation, performance testing, and the validation of the simulated output against known physics processes.
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| 13. |
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| 14. |
- Fujimoto, Seiji, et al.
(författare)
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ALMA Lensing Cluster Survey: Bright [C ii] 158 mu m Lines from a Multiply Imaged Sub-L* Galaxy at z=6.0719
- 2021
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 911:2
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Forskningsöversikt (refereegranskat)abstract
- We present bright [C ii] 158 mu m line detections from a strongly magnified and multiply imaged (mu similar to 20-160) sub-L* (MUV=-19.75-0.44+0.55) Lyman-break galaxy (LBG) at z = 6.0719 +/- 0.0004, drawn from the ALMA Lensing Cluster Survey (ALCS). Emission lines are identified at 268.7 GHz at >= 8 sigma exactly at the positions of two multiple images of the LBG, behind the massive galaxy cluster RXCJ0600-2007. Our lens models, updated with the latest spectroscopy from VLT/MUSE, indicate that a sub region of the LBG crosses the caustic, and is lensed into a long (similar to 6 '') arc with a local magnification of mu similar to 160, for which the [C ii] line is also significantly detected. The source plane reconstruction resolves the interstellar medium (ISM) structure, showing that the [C ii] line is co-spatial with the rest-frame UV continuum at a scale of similar to 300 pc. The [C ii] line properties suggest that the LBG is a rotation-dominated system, whose velocity gradient explains a slight difference in redshifts between the whole LBG and its sub-region. The star formation rate (SFR)-L-[CII] relations, for whole and sub-regions of the LBG, are consistent with those of local galaxies. We evaluate the lower limit of the faint-end of the [C ii] luminosity function at z = 6, finding it to be consistent with predictions from semi-analytical models and from the local SFR-L-[CII] relation with a SFR function at z = 6. These results imply that the local SFR-L-[CII] relation is universal for a wide range of scales, including the spatially resolved ISM, the whole region of the galaxy, and the cosmic scale, even in the epoch of reionization.
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| 15. |
- Hashimoto, Takuya, et al.
(författare)
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The onset of star formation 250 million years after the Big Bang
- 2018
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Ingår i: Nature. - : NATURE PUBLISHING GROUP. - 0028-0836 .- 1476-4687. ; 557:7705, s. 392-395
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Tidskriftsartikel (refereegranskat)abstract
- A fundamental quest of modern astronomy is to locate the earliest galaxies and study how they influenced the intergalactic medium a few hundred million years after the Big Bang(1-3). The abundance of star-forming galaxies is known to decline(4,5) from redshifts of about 6 to 10, but a key question is the extent of star formation at even earlier times, corresponding to the period when the first galaxies might have emerged. Here we report spectroscopic observations of MACS1149-JD1(6), a gravitationally lensed galaxy observed when the Universe was less than four per cent of its present age. We detect an emission line of doubly ionized oxygen at a redshift of 9.1096 +/- 0.0006, with an uncertainty of one standard deviation. This precisely determined redshift indicates that the red rest-frame optical colour arises from a dominant stellar component that formed about 250 million years after the Big Bang, corresponding to a redshift of about 15. Our results indicate that it may be possible to detect such early episodes of star formation in similar galaxies with future telescopes.
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| 16. |
- Jolly, Jean Baptiste, 1990, et al.
(författare)
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ALMA Lensing Cluster Survey: A spectral stacking analysis of [C II] in lensed z similar to 6 galaxies
- 2021
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 652
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Tidskriftsartikel (refereegranskat)abstract
- Context. The properties of galaxies at redshift z>6 hold the key to our understanding of the early stages of galaxy evolution and can potentially identify the sources of the ultraviolet radiation that give rise to the epoch of reionisation. The far-infrared cooling line of [C II] at 158 mu m is known to be bright and correlate with the star formation rate (SFR) of low-redshift galaxies, and hence is also suggested to be an important tracer of star formation and interstellar medium properties for very high-redshift galaxies. Aims. With the aim to study the interstellar medium properties of gravitationally lensed galaxies at z>6, we search for [C II] and thermal dust emission in a sample of 52 > 6 galaxies observed by the ALMA Lensing Cluster Survey. Methods. We perform our analysis using LINESTACKER, stacking both [C II] and continuum emission. The target sample is selected from multiple catalogues, and the sample galaxies have spectroscopic redshift or low-uncertainty photometric redshifts (sigma(z)<0.02) in nine galaxy clusters. Source properties of the target galaxies are either extracted from the literature or computed using spectral energy distribution fitting. Both weighted-average and median stacking are used, on both the full sample and three sub-samples. Results. Our analyses find no detection of either [C II] or continuum. An upper limit on L-[CII] is derived, implying that [C II] remains marginally consistent for low-SFR z>6 galaxies but likely is under-luminous compared to the local L-[CII]-SFR relationship. We discuss potential biases and possible physical effects that may be the cause of the non-detection. Further, the upper limit on the dust continuum implies that less than half of the star formation is obscured.
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| 17. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 18. |
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| 19. |
- Pallister, Sam, et al.
(författare)
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A blueprint for a simultaneous test of quantum mechanics and general relativity in a space-based quantum optics experiment
- 2017
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Ingår i: EPJ Quantum Technology. - : Springer Science and Business Media LLC. - 2196-0763. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- In this paper we propose an experiment designed to observe a general-relativistic effect on single photon interference. The experiment consists of a folded Mach-Zehnder interferometer, with the arms distributed between a single Earth orbiter and a ground station. By compensating for other degrees of freedom and the motion of the orbiter, this setup aims to detect the influence of general relativistic time dilation on a spatially superposed single photon. The proposal details a payload to measure the required effect, along with an extensive feasibility analysis given current technological capabilities.
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| 20. |
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| 21. |
- Tokuoka, Tsuyoshi, et al.
(författare)
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Possible Systematic Rotation in the Mature Stellar Population of a z=9.1 Galaxy
- 2022
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Ingår i: Astrophysical Journal Letters. - : Institute of Physics Publishing (IOPP). - 2041-8205 .- 2041-8213. ; 933:1
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Tidskriftsartikel (refereegranskat)abstract
- We present new observations with the Atacama Large Millimeter/submillimeter Array for a gravitationally lensed galaxy at z = 9.1, MACS1149-JD1. [O III] 88 mu m emission is detected at 10 sigma with a spatial resolution of similar to 0.3 kpc in the source plane, enabling the most distant morphokinematic study of a galaxy. The [O iii] emission is distributed smoothly without any resolved clumps and shows a clear velocity gradient with Delta V-obs/2 sigma(tot) = 0.84 +/- 0.23, where Delta V-obs is the observed maximum velocity difference and sigma(tot) is the velocity dispersion measured in the spatially integrated line profile, suggesting a rotating system. Assuming a geometrically thin self-gravitating rotation disk model, we obtain V-rot/sigma(V)=0.67-0.26+0.73, where V-rot and sigma (V) are the rotation velocity and velocity dispersion, respectively, still consistent with rotation. The resulting disk mass of 0.65-0.40+1.37x10(9) M-circle dot is consistent with being associated with the stellar mass identified with a 300 Myr old stellar population independently indicated by a Balmer break in the spectral energy distribution. We conclude that the most of the dynamical mass is associated with the previously identified mature stellar population that formed at z similar to 15.
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| 22. |
- Aad, G., et al.
(författare)
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- 2011
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swepub:Mat__t (refereegranskat)
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| 23. |
- Aad, G., et al.
(författare)
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- 2011
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Tidskriftsartikel (refereegranskat)
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| 24. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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| 25. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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