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- Geser, F, et al.
(författare)
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The European Multiple System Atrophy-Study Group (EMSA-SG)
- 2005
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Ingår i: Journal of Neural Transmission. - : Springer Science and Business Media LLC. - 0300-9564 .- 1435-1463. ; 112:12, s. 1677-1686
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Tidskriftsartikel (refereegranskat)abstract
- Introduction. The European Multiple System Atrophy-Study Group (EMSA-SG) is an academic network comprising 23 centers across Europe and Israel that has constituted itself already in January 1999. This international forum of established experts under the guidance of the University Hospital of Innsbruck as coordinating center is supported by the 5th framework program of the European Union since March 2001 (QLK6-CT-2000-00661). Objectives. Primary goals of the network include (1) a central Registry for European multiple system atrophy (MSA) patients, (2) a decentralized DNA Bank, (3) the development and validation of the novel Unified MSA Rating Scale (UMSARS), (4) the conduction of a Natural History Study (NHS), and (5) the planning or implementation of interventional therapeutic trials. Methods. The EMSA-SG Registry is a computerized data bank localized at the coordinating centre in Innsbruck collecting diagnostic and therapeutic data of MSA patients. Blood samples of patients and controls are recruited into the DNA Bank. The UMSARS is a novel specific rating instrument that has been developed and validated by the EMSA-SG. The NHS comprises assessments of basic anthropometric data as well as a range of scales including the UMSARS, Unified Parkinson's Disease Rating Scale (UPDRS), measures of global disability, Red Flag list, MMSE (Mini Mental State Examination), quality of live measures, i.e. EuroQoL 5D (EQ-5D) and Medical Outcome Study Short Form (SF-36) as well as the Beck Depression Inventory (BDI). In a subgroup of patients dysautonomic features are recorded in detail using the Queen Square Cardiovascular Autonomic Function Test Battery, the Composite Autonomic Symptom Scale (COMPASS) and measurements of residual urinary volume. Most of these measures are repeated at 6-monthly follow up visits for a total study period of 24 months. Surrogate markers of the disease progression are identified by the EMSA-SG using magnetic resonance and diffusion weighted imaging (MRI and DWI, respectively). Results. 412 patients have been recruited into the Registry so far. Probable MSA-P was the most common diagnosis (49% of cases). 507 patients donated DNA for research. 131 patients have been recruited into the NHS. There was a rapid deterioration of the motor disorder (in particular akinesia) by 26.1% of the UMSARS II, and - to a lesser degree - of activities of daily living by 16.8% of the UMSARS I in relation to the respective baseline scores. Motor progression was associated with low motor or global disability as well as low akinesia or cerebellar subscores at baseline. Mental function did not deteriorate during this short follow up period. Conclusion. For the first time, prospective data concerning disease progression are available. Such data about the natural history and prognosis of MSA as well as surrogate markers of disease process allow planning and implementation of multi-centre phase II/III neuroprotective intervention trials within the next years more effectively. Indeed, a trial on growth hormone in MSA has just been completed, and another on minocycline will be completed by the end of this year.
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- Carmelo, J. M. P., et al.
(författare)
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Correlation effects in one-dimensional systems
- 2007
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Ingår i: Strongly Correlated Systems, Coherence and Entanglement. - Hackensack, N.J. : World Scientific. - 9789812705723 ; , s. 3-27
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- We review developments concerning the effect of correlations on the electronic properties of one-dimensional systems, focusing our analysis on the one-dimensional Hubbard model. We consider methods used to describe the exotic properties of these systems, ranging from bosonization associated with the Tomonaga and Luttinger liquid behavior, to the Bethe ansatz solution, referring to all energy scales of solvable quantum problems and the pseudoparticle description. We use that description to study the model energy spectrum and the low-energy quantities. In the ensuing companion chapter we discuss the relation of the electronic operators to these quantum objects.
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| 11. |
- Carmelo, J. M. P., et al.
(författare)
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Dynamical and spectral properties of low dimensional materials
- 2007
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Ingår i: Strongly Correlated Systems, Coherence and Entanglement. - Hackensack, N.J. : World Scientific. - 9789812705723 ; , s. 29-59
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This chapter follows its companion, chapter 1. Here we review different methods based on the Bethe ansatz solution of the one-dimensional Hubbard model, in order to study quantities related to charge transport and the momentum dependent conductivity. Moreover, we report recent developments on finite-energy dynamical properties. This is achieved by introducing new entities called pseudofermions which are basically free, in the sense that their energies are additive, and where the effect of the interactions appears through phase shifts that are absorbed by their discrete momentum values. The resulting pseudofermion dynamical theory enables the evaluation of matrix elements between energy eigen-states and hence the derivation of finite energy expressions for the one- and two-electron correlation and spectral functions. Comparison with experimental results is also discussed.
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- Elbaz, Alexis, et al.
(författare)
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Independent and Joint Effects of the MAPT and SNCA Genes in Parkinson Disease
- 2011
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Ingår i: Annals of Neurology. - : Wiley. - 1531-8249 .- 0364-5134. ; 69:5, s. 778-792
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Tidskriftsartikel (refereegranskat)abstract
- Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium. Methods: Participants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach. Results: Fifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 30 end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale. Interpretation: This study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects. ANN NEUROL 2011; 69: 778-792
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| 13. |
- Heckman, Michael G., et al.
(författare)
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Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
- 2013
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Ingår i: Movement Disorders. - : Wiley. - 0885-3185. ; 28:12, s. 1740-1744
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. MethodsThe Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. ResultsHerein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society
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- Peres, N. M. R., et al.
(författare)
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Phase diagram and magnetic collective excitations of the Hubbard model for graphene sheets and layers
- 2004
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Ingår i: Physical Review B Condensed Matter. - 0163-1829 .- 1095-3795. ; 70:19, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- We discuss the magnetic phases of the Hubbard model for the honeycomb lattice both in two and three spatial dimensions. A ground state phase diagram is obtained depending on the interaction strength U and electronic density n. We find a first order phase transition between ferromagnetic regions where the spin is maximally polarized (Nagaoka ferromagnetism) and regions with smaller magnetization (weak ferromagnetism). When taking into account the possibility of spiral states, we find that the lowest critical U is obtained for an ordering momentum different from zero. The evolution of the ordering momentum with doping is discussed. The magnetic excitations (spin waves) in the antiferromagnetic insulating phase are calculated from the random-phase approximation for the spin susceptibility. We also compute the spin fluctuation correction to the mean field magnetization by virtual emission/absorption of spin waves. In the large U limit, the renormalized magnetization agrees qualitatively with the Holstein-Primakoff theory of the Heisenberg antiferromagnet, although the latter approach produces a larger renormalization.
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| 15. |
- Ross, Owen A., et al.
(författare)
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
- 2011
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Ingår i: Lancet Neurology. - 1474-4465. ; 10:10, s. 898-908
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Tidskriftsartikel (refereegranskat)abstract
- Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. Methods LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. Findings 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 133-15.09; p=0.012). Interpretation The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. Funding Michael J Fox Foundation and National Institutes of Health.
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| 16. |
- Sharma, Manu, et al.
(författare)
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Large-scale replication and heterogeneity in Parkinson disease genetic loci
- 2012
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Ingår i: Neurology. - 1526-632X. ; 79:7, s. 67-659
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown.METHODS: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ancestry.RESULTS: In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78-0.87 (LAMP3, BST1, and MAPT) and susceptibility per-allele odds ratios of 1.14-1.43 (STK39, GAK, SNCA, LRRK2, SYT11, and HIP1R). For 5 of the 9 replicated SNPs there was nominally significant between-site heterogeneity in the effect sizes (I(2) estimates ranged from 39% to 48%). Subgroup analysis by ethnicity showed significantly stronger effects for the BST1 (rs11724635) in Asian vs Caucasian populations and similar effects for SNCA, LRRK2, LAMP3, HIP1R, and STK39 in Asian and Caucasian populations, while MAPT rs2942168 and SYT11 rs34372695 were monomorphic in the Asian population, highlighting the role of population-specific heterogeneity in PD.CONCLUSION: Our study allows insight to understand the distribution of newly identified genetic factors contributing to PD and shows that large-scale evaluation in diverse populations is important to understand the role of population-specific heterogeneity.
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| 17. |
- Bozi, Daniel, et al.
(författare)
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The TTF finite-energy spectral features in photoemission of TTF–TCNQ : the Hubbard-chain description
- 2007
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Ingår i: Journal of Physics. - : Institute of Physics (IOP). - 0953-8984 .- 1361-648X. ; 20:2
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Tidskriftsartikel (refereegranskat)abstract
- A dynamical theory which accounts for all microscopic one-electron processes is used to study the spectral function of the 1D Hubbard model for the whole (k,ω)-plane, beyond previous studies which focused on the weight distribution in the vicinity of the singular branch lines only. While our predictions agree with those of the latter studies concerning the tetracyanoquinodimethane (TCNQ) related singular features in photoemission of the organic compound tetrathiafulvalene–tetracyanoquinodimethane (TTF–TCNQ) metallic phase, the generalized theory also leads to quantitative agreement concerning the tetrathiafulvalene (TTF) related finite-energy spectral features, which are found to correspond to a value of the on-site repulsion U larger than for TCNQ. Our study reveals the microscopic mechanisms behind the unusual spectral features of TTF–TCNQ and provides a good overall description of those features for the whole (k,ω)-plane.
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| 18. |
- Carmelo, J M P, et al.
(författare)
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Dynamical functions of a 1D correlated quantum liquid
- 2008
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Ingår i: Journal of Physics. - : Institute of Physics (IOP). - 0953-8984 .- 1361-648X. ; 20:41
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Tidskriftsartikel (refereegranskat)abstract
- The dynamical correlation functions in one-dimensional electronic systems show power-law behaviour at low energies and momenta close to integer multiples of the charge and spin Fermi momenta. These systems are usually referred to as Tomonaga–Luttinger liquids. However, near well defined lines of the (k,ω) plane the power-law behaviour extends beyond the low-energy cases mentioned above, and also appears at higher energies, leading to singular features in the photoemission spectra and other dynamical correlation functions. The general spectral-function expressions derived in this paper were used in recent theoretical studies of the finite-energy singular features in photoemission of the organic compound tetrathiafulvalene–tetracyanoquinodimethane (TTF-TCNQ) metallic phase. They are based on a so-called pseudofermion dynamical theory (PDT), which allows us to systematically enumerate and describe the excitations in the Hubbard model starting from the Bethe ansatz, as well as to calculate the charge and spin object phase shifts appearing as exponents of the power laws. In particular, we concentrate on the spin-density limit and on effects in the vicinity of the singular border lines, as well as close to half filling. Our studies take into account spectral contributions from types of microscopic processes that do not occur for finite values of the spin density. In addition, the specific processes involved in the spectral features of TTF-TCNQ are studied. Our results are useful for the further understanding of the unusual spectral properties observed in low-dimensional organic metals and also provide expressions for the one- and two-atom spectral functions of a correlated quantum system of ultracold fermionic atoms in a 1D optical lattice with on-site two-atom repulsion.
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| 19. |
- Carmelo, J M P, et al.
(författare)
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Finite-energy spectral-weight distributions of a 1D correlated metal
- 2005
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Ingår i: Nuclear Physics B. - Amsterdam : Elsevier. - 0550-3213 .- 1873-1562. ; 725:3, s. 421-466
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Tidskriftsartikel (refereegranskat)abstract
- We derive general closed-form analytical expressions for the finite-energy one- and two-electron spectral-weight distributions of an one-dimensional correlated metal with on-site electronic repulsion. Our results also provide general expressions for the one- and two-atom spectral functions of a correlated quantum system of cold fermionic atoms in a one-dimensional optical lattice with onsite atomic repulsion. In the limit of zero spin density our spectral-function expressions provide the correct zero-spin density results. Our results reveal the dominant non-perturbative microscopic many-particle mechanisms behind the exotic spectral properties observed in quasi-one-dimensional metals and correlated systems of cold fermionic atoms in one-dimensional optical lattices. (c) 2005 Elsevier B.V. All rights reserved.
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