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Sökning: WFRF:(Radford D C)

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1.
  • Niemi, MEK, et al. (författare)
  • 2021
  • swepub:Mat__t
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2.
  • Kanai, M, et al. (författare)
  • 2023
  • swepub:Mat__t
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  • Vogel, Jacob W., et al. (författare)
  • Four distinct trajectories of tau deposition identified in Alzheimer’s disease
  • 2021
  • Ingår i: Nature Medicine. - : Springer Science and Business Media LLC. - 1078-8956 .- 1546-170X. ; 27:5, s. 871-881
  • Tidskriftsartikel (refereegranskat)abstract
    • Alzheimer’s disease (AD) is characterized by the spread of tau pathology throughout the cerebral cortex. This spreading pattern was thought to be fairly consistent across individuals, although recent work has demonstrated substantial variability in the population with AD. Using tau-positron emission tomography scans from 1,612 individuals, we identified 4 distinct spatiotemporal trajectories of tau pathology, ranging in prevalence from 18 to 33%. We replicated previously described limbic-predominant and medial temporal lobe-sparing patterns, while also discovering posterior and lateral temporal patterns resembling atypical clinical variants of AD. These ‘subtypes’ were stable during longitudinal follow-up and were replicated in a separate sample using a different radiotracer. The subtypes presented with distinct demographic and cognitive profiles and differing longitudinal outcomes. Additionally, network diffusion models implied that pathology originates and spreads through distinct corticolimbic networks in the different subtypes. Together, our results suggest that variation in tau pathology is common and systematic, perhaps warranting a re-examination of the notion of ‘typical AD’ and a revisiting of tau pathological staging. © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.
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11.
  • Zhou, XP, et al. (författare)
  • Non-coding variability at the APOE locus contributes to the Alzheimer's risk
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3310-
  • Tidskriftsartikel (refereegranskat)abstract
    • Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. These risk haplotypes are associated with changes of AD-related endophenotypes including cognitive performance, and altered expression of APOE and its nearby genes in the human brain and blood. High-throughput genome-wide chromosome conformation capture analysis further supports the roles of these risk haplotypes in modulating chromatin states and gene expression in the brain. Our findings provide compelling evidence for additional risk factors in the APOE locus that contribute to AD pathogenesis.
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12.
  • Abgrall, N., et al. (författare)
  • The large enriched germanium experiment for neutrinoless double beta decay (LEGEND)
  • 2017
  • Ingår i: AIP Conference Proceedings. - : Author(s). - 1551-7616 .- 0094-243X. ; 1894
  • Konferensbidrag (refereegranskat)abstract
    • The observation of neutrinoless double-beta decay (0νββ) would show that lepton number is violated, reveal that neu-trinos are Majorana particles, and provide information on neutrino mass. A discovery-capable experiment covering the inverted ordering region, with effective Majorana neutrino masses of 15 - 50 meV, will require a tonne-scale experiment with excellent energy resolution and extremely low backgrounds, at the level of ∼0.1 count /(FWHM·t·yr) in the region of the signal. The current generation 76Ge experiments GERDA and the Majorana Demonstrator, utilizing high purity Germanium detectors with an intrinsic energy resolution of 0.12%, have achieved the lowest backgrounds by over an order of magnitude in the 0νββ signal region of all 0νββ experiments. Building on this success, the LEGEND collaboration has been formed to pursue a tonne-scale 76Ge experiment. The collaboration aims to develop a phased 0νββ experimental program with discovery potential at a half-life approaching or at 1028 years, using existing resources as appropriate to expedite physics results.
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13.
  • Fomalont, E. B., et al. (författare)
  • THE 2014 ALMA LONG BASELINE CAMPAIGN: AN OVERVIEW
  • 2015
  • Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 808:1
  • Tidskriftsartikel (refereegranskat)abstract
    • A major goal of the Atacama Large Millimeter/submillimeter Array (ALMA) is to make accurate images with resolutions of tens of milliarcseconds, which at submillimeter (submm) wavelengths requires baselines up to similar to 15 km. To develop and test this capability, a Long Baseline Campaign (LBC) was carried out from 2014 September to late November, culminating in end-to-end observations, calibrations, and imaging of selected Science Verification (SV) targets. This paper presents an overview of the campaign and its main results, including an investigation of the short-term coherence properties and systematic phase errors over the long baselines at the ALMA site, a summary of the SV targets and observations, and recommendations for science observing strategies at long baselines. Deep ALMA images of the quasar 3C 138 at 97 and 241 GHz are also compared to VLA 43 GHz results, demonstrating an agreement at a level of a few percent. As a result of the extensive program of LBC testing, the highly successful SV imaging at long baselines achieved angular resolutions as fine as 19 mas at similar to 350 GHz. Observing with ALMA on baselines of up to 15 km is now possible, and opens up new parameter space for submm astronomy.
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14.
  • Romagnoni, A, et al. (författare)
  • Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
  • 2019
  • Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10351-
  • Tidskriftsartikel (refereegranskat)abstract
    • Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.
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  • Wang, Li-San, et al. (författare)
  • Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
  • 2015
  • Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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17.
  • Momozawa, Y, et al. (författare)
  • IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
  • 2018
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 2427-
  • Tidskriftsartikel (refereegranskat)abstract
    • GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach.
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  • Bonham, LW, et al. (författare)
  • Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
  • 2019
  • Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10854-
  • 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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  • Guerreiro, R., et al. (författare)
  • Heritability and genetic variance of dementia with Lewy bodies
  • 2019
  • Ingår i: Neurobiology of Disease. - : Elsevier BV. - 0969-9961. ; 127, s. 492-501
  • Tidskriftsartikel (refereegranskat)abstract
    • Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established that a substantial portion of the genetic heritable component of complex traits is not captured by genome-wide significant SNPs. To overcome this issue, we have estimated the proportion of phenotypic variance explained by genetic variability (SNP heritability) in DLB using a method that is unbiased by allele frequency or linkage disequilibrium properties of the underlying variants. This shows that the heritability of DLB is nearly twice as high as previous estimates based on common variants only (31% vs 59.9%). We also determine the amount of phenotypic variance in DLB that can be explained by recent polygenic risk scores from either Parkinson's disease (PD) or Alzheimer's disease (AD), and show that, despite being highly significant, they explain a low amount of variance. Additionally, to identify pleiotropic events that might improve our understanding of the disease, we performed genetic correlation analyses of DLB with over 200 diseases and biomedically relevant traits. Our data shows that DLB has a positive correlation with education phenotypes, which is opposite to what occurs in AD. Overall, our data suggests that novel genetic risk factors for DLB should be identified by larger GWAS and these are likely to be independent from known AD and PD risk variants. © 2019 Elsevier Inc.
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23.
  • Guerreiro, R., et al. (författare)
  • Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
  • 2018
  • Ingår i: Lancet Neurology. - 1474-4422. ; 17:1, s. 64-74
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of dementia with Lewy bodies, we have done a genome-wide association study with the aim of identifying genetic risk factors for this disorder. Methods In this two-stage genome-wide association study, we collected samples from white participants of European ancestry who had been diagnosed with dementia with Lewy bodies according to established clinical or pathological criteria. In the discovery stage (with the case cohort recruited from 22 centres in ten countries and the controls derived from two publicly available database of Genotypes and Phenotypes studies [phs000404.v1.p1 and phs000982.v1.p1] in the USA), we performed genotyping and exploited the recently established Haplotype Reference Consortium panel as the basis for imputation. Pathological samples were ascertained following autopsy in each individual brain bank, whereas clinical samples were collected after participant examination. There was no specific timeframe for collection of samples. We did association analyses in all participants with dementia with Lewy bodies, and also only in participants with pathological diagnosis. In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage. Lastly, we did a meta-analysis of both stages under a fixed-effects model and used logistic regression to test for association in each stage. Findings This study included 1743 patients with dementia with Lewy bodies (1324 with pathological diagnosis) and 4454 controls (1216 patients with dementia with Lewy bodies vs 3791 controls in the discovery stage; 527 vs 663 in the replication stage). Results confirm previously reported associations: APOE (rs429358; odds ratio [OR] 2.40, 95% CI 2.14-2.70; p=1.05 x 10-48), SNCA (rs7681440; OR 0.73, 0.66-0.81; p=6.39 x 10(-10)), and GBA (rs35749011; OR 2.55, 1.88-3.46; p=1.78 x 10(-9)). They also provide some evidence for a novel candidate locus, namely CNTN1 (rs7314908; OR 1.51, 1.27-1.79; p=2.32 x 10(-6)); further replication will be important. Additionally, we estimate the heritable component of dementia with Lewy bodies to be about 36%. Interpretation Despite the small sample size for a genome-wide association study, and acknowledging the potential biases from ascertaining samples from multiple locations, we present the most comprehensive and well powered genetic study in dementia with Lewy bodies so far. These data show that common genetic variability has a role in the disease.
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24.
  • Svensson, C. E., et al. (författare)
  • Decay Out of the Doubly Magic Superdeformed Band in the N=Z Nucleus 60Zn
  • 1999
  • Ingår i: Physical Review Letters. - 1079-7114. ; 82:17, s. 3400-3403
  • Tidskriftsartikel (refereegranskat)abstract
    • The doubly magic superdeformed band in the N = Z nucleus Zn-60 has been identified. Linking transitions connecting this band to the yrast line provide the first spin, parity, and excitation energy measurements for superdeformed states in the A similar to 60 region. The stretched-E2 character and relatively large B(E2) values of these transitions suggest a nonstatistical decay-out process.
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  • Scott, G. D., et al. (författare)
  • Fluid and Tissue Biomarkers of Lewy Body Dementia: Report of an LBDA Symposium
  • 2022
  • Ingår i: Frontiers in Neurology. - : Frontiers Media SA. - 1664-2295. ; 12
  • Tidskriftsartikel (refereegranskat)abstract
    • The Lewy Body Dementia Association (LBDA) held a virtual event, the LBDA Biofluid/Tissue Biomarker Symposium, on January 25, 2021, to present advances in biomarkers for Lewy body dementia (LBD), which includes dementia with Lewy bodies (DLBs) and Parkinson's disease dementia (PDD). The meeting featured eight internationally known scientists from Europe and the United States and attracted over 200 scientists and physicians from academic centers, the National Institutes of Health, and the pharmaceutical industry. Methods for confirming and quantifying the presence of Lewy body and Alzheimer's pathology and novel biomarkers were discussed.
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  • Svensson, C. E., et al. (författare)
  • Collective rotational motion in the N=Z nucleus 36Ar
  • 2001
  • Ingår i: Nuclear Physics A. - 0375-9474. ; 682:1-4, s. 1-11
  • Tidskriftsartikel (refereegranskat)abstract
    • A superdeformed rotational band has been identified in the N = Z nucleus 36Ar, firmly linked to known low-spin states, and observed to its high-spin termination at Iπ = 16+. Lifetime measurements by the Doppler shift attenuation method establish a large low-spin deformation (β2 ≈ 0.46) and a decrease in the collectivity as the band approaches termination. Comparisons with cranked Nilsson-Strutinsky and large-scale spherical shell model calculations lead to a consistent description of the band based on a configuration in which four particles are promoted to the pf shell. With two major shells active for both protons and neutrons, yet a valence space dimension small enough to be approached from the shell model perspective, this band offers an excellent opportunity to investigate the microscopic structure of collective rotational motion in nuclei.
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32.
  • Svensson, C. E., et al. (författare)
  • Smooth Termination of Rotational Bands in 62Zn: Evidence for a Loss of Collectivity
  • 1998
  • Ingår i: Physical Review Letters. - 1079-7114. ; 80:12, s. 2558-2561
  • Tidskriftsartikel (refereegranskat)abstract
    • Two sets of strongly coupled rotational bands have been identified in Zn-62. These bands have been observed up to the terminating states of their respective configurations. Lifetime measurements indicate that the transition quadrupole moments in these bands decrease as termination is approached. These results establish the first terminating states of rotational bands in the A similar to 60 mass region and confirm the predicted loss of collectivity associated with smooth band termination.
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33.
  • Svensson, C. E., et al. (författare)
  • Superdeformation in the N = z Nucleus 36Ar : Experimental, deformed mean field, and spherical shell model descriptions
  • 2000
  • Ingår i: Physical Review Letters. - 0031-9007. ; 85:13, s. 2693-2696
  • Tidskriftsartikel (refereegranskat)abstract
    • A superdeformed rotational band has been identified in 36Ar, linked to known low-spin states, and observed to its high-spin termination at Iπ = 16+. Cranked Nilsson-Strutinsky and spherical shell model calculations assign the band to a configuration in which four pf-shell orbitals are occupied, leading to a low-spin deformation β2 ≈ 0.45. Two major shells are active for both protons and neutrons, yet the valence space remains small enough to be confronted with the shell model. This band thus provides an ideal case to study the microscopic structure of collective rotational motion.
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  • Yu, C. H., et al. (författare)
  • Comparison of Superdeformed Bands in 61Zn and 60Zn: Possible Evidence for T=0 Pairing
  • 1999
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 60:3
  • Tidskriftsartikel (refereegranskat)abstract
    • The yrast superdeformed band in Zn-61 has been established using Si-28(Ar-36, 2pn)Zn-61 and Ca-40(Si-29, 2 alpha)Zn-61 fusion-evaporation reactions. The excitation energy of this band was determined via two transitions that link this band to the normally deformed states. Lifetime analysis of this band resulted in a quadrupole moment of Q(t) = 3.0 +/- (0.5)(0.4)e b, which corresponds to a deformation of beta(2) = 0.50+/-(0.07)(0.06). A comparison of the J((2)) dynamical moments of inertia of the yrast superdeformed band in Zn-61 with those in Zn-60 shows a nearly complete blocking of the observed alignment in Zn-60, indicating that T=0 proton-neutron pair correlations may be present in Zn-60. [S0556-2813(99)51109-6].
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35.
  • Ferrari, Raffaele, et al. (författare)
  • Frontotemporal dementia and its subtypes: a genome-wide association study.
  • 2014
  • Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
  • 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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36.
  • Gao, YX, et al. (författare)
  • Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
  • 2020
  • Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1, s. 12184-
  • 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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37.
  • Orme, T., et al. (författare)
  • Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
  • 2020
  • Ingår i: Acta neuropathologica communications. - : Springer Science and Business Media LLC. - 2051-5960. ; 8:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.
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39.
  • Ward, D., et al. (författare)
  • Band Structure of 68Ge
  • 2001
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 63:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The nucleus Ge-68 has been studied by gamma-ray spectroscopy following its population at high spin in the reaction Ca-40(S-32,4p) Ge-68. The reaction channel was selected with the Microball array and gamma rays were detected with the Gammasphere array. The level scheme is very complex, reflecting the many different, and presumably mixed, excitation modes in this nucleus. Nevertheless, there appear to be some simplifications in the spin range above 18 (h) over bar where we have identified a superdeformed band and several terminating bands. The results are compared with a cranked Nilsson-Strutinsky model without pairing.
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40.
  • Yu, C. H., et al. (författare)
  • Superdeformed and Highly Deformed Bands in 65Zn and Neutron-proton Interactions in Zn Isotopes
  • 2000
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 62:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Superdeformed and highly deformed rotational bands were established in Zn-65 using the Ca-40(Si-29,4p)Zn-65 reaction, and averaged quadrupole moments were measured for two of these bands. The configurations of these bands were assigned based on Hartree-Fock calculations. One of the three bands exhibits at low (h) over bar omega a rise in the J((2)) dynamic moments of inertia that is similar to the alignment gain observed in Zn-60. A comparison of the rotational band configurations and their J((2)) moments of inertia for light Zn isotopes suggests that the rise in J((2)) is most likely caused by np interactions associated with the valence protons and neutrons occupying the g(9/2) intruder orbits.
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44.
  • van der Lee, S. J., et al. (författare)
  • A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
  • 2019
  • Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 138:2, s. 237-250
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLC gamma 2 pathway as drug-target.
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45.
  • Wang, X., et al. (författare)
  • Collective structures up to spin ∼ 65h in the N 90 isotones 158Er and 157Ho
  • 2012
  • Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 381:1
  • Tidskriftsartikel (refereegranskat)abstract
    • A new collective band with high dynamic moment of inertia in 158Er at spins beyond band termination has been found in addition to the two previously reported ones. The measured transition quadrupole moments (Qt) of these three bands are very similar. These three bands have been suggested to possess a triaxial strongly deformed shape, based on comparisons with calculations using the cranked Nilsson-Strutinsky model and with tilted axis cranking calculations using the Skyrme-Hartree-Fock model. In addition, three collective bands with similar high dynamic moments of inertia, tentatively assigned to 157Ho, have been observed. Thus, it is suggested that all these structures share a common underlying character and that they are most likely associated with triaxial strongly deformed minima which are predicted to be close to the yrast line at spin 50 - 70h.
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46.
  • Davis, B, et al. (författare)
  • Voices of chemical biology
  • 2021
  • Ingår i: Nature chemical biology. - : Springer Science and Business Media LLC. - 1552-4469 .- 1552-4450. ; 17:1, s. 1-4
  • Tidskriftsartikel (refereegranskat)
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47.
  • Lipoglavsek, M., et al. (författare)
  • First Observation of Excitation Across the 100Sn Core
  • 2001
  • Ingår i: Nuclear Physics, Section A. - 0375-9474. ; 682, s. 399-403
  • Tidskriftsartikel (refereegranskat)abstract
    • Excited states of nuclei near the doubly-magic nucleus Sn-100 were studied with the Ni-58+Cr-50 reaction. The experimental setup consisted of the GAMMASPHERE array augmented with light charged-particle and neutron detectors. Excited states were identified for the first time in the proton emitting nucleus Sb-105. Excitations across the N=Z=50 doubly closed shell were observed in Cd-99 and In-101. Some results of large-scale shell-model calculations are discussed.
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