| 91. |
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| 92. |
- Escott-Price, Valentina, et al.
(författare)
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Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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| 93. |
- Ferrari, Raffaele, et al.
(författare)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 94. |
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| 95. |
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| 96. |
- Kacmarcik, J., et al.
(författare)
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Unusual Interplay between Superconductivity and Field-Induced Charge Order in YBa2Cu3Oy
- 2018
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 121:16
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Tidskriftsartikel (refereegranskat)abstract
- We present a detailed study of the temperature (T) and magnetic field (H) dependence of the electronic density of states (DOS) at the Fermi level, as deduced from specific heat and Knight shift measurements in underdoped YBa2Cu3Oy. We find that the DOS becomes field independent above a characteristic field H-DOS, and that the H-DOS (T) line displays an unusual inflection near the onset of the long-range 3D charge-density wave order. The unusual S shape of H-DOS (T) is suggestive of two mutually exclusive orders that eventually establish a form of cooperation in order to coexist at low T. On theoretical grounds, such a collaboration could result from the stabilization of a pair-density wave state, which calls for further investigation in this region of the phase diagram.
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| 97. |
- Kall, M., et al.
(författare)
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Resonance Raman scattering as a probe of oxygen dynamics in YBa2Cu3Ox
- 1998
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Ingår i: Journal of Physics and Chemistry of Solids. - 0022-3697 .- 1879-2553. ; 59, s. 1988-1990
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Tidskriftsartikel (refereegranskat)abstract
- We report on the metastable photo-bleaching of the 2.15 eV yellow Raman resonance in oxygen deficient YBa2Cu3Ox (x = 6.35-6.87), extending investigations by Wake ct al. (Phys. Rev. Lett., 1991,67, 3728) for x approximate to 7. Polarization, x dependence and phonon spectra indicate that the resonance is localized at oxygen vacancies in long CuO-chains. The resonance is thermally reactivated from the metastable bleached state with a relaxation time tau similar to exp[Delta/k(B)T] with Delta approximate to 1 eV. The resulting temperature dependent equilibrium resonance intensity essentially miners the oxygen superstructure disordering around T* approximate to 100 degrees C observed in the same crystals by hard X-ray diffraction, thus offering a new effective probe of chain-oxygen dynamics in YBa2Cu3Ox. (C) 1998 Elsevier Science Ltd. All rights reserved.
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| 98. |
- Orme, T., et al.
(författare)
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Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
- 2020
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Ingår i: Acta neuropathologica communications. - : Springer Science and Business Media LLC. - 2051-5960. ; 8:1
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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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| 99. |
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| 100. |
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