| 1. |
- Pegoraro, E, et al.
(författare)
-
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.
- 2011
-
Ingår i: Neurology. - 0028-3878. ; 76:3, s. 219-26
-
Tidskriftsartikel (refereegranskat)abstract
- Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers.
|
|
| 2. |
- Fogh, Isabella, et al.
(författare)
-
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
- 2014
-
Ingår i: Human Molecular Genetics. - Oxford : Oxford University Press. - 0964-6906 .- 1460-2083. ; 23:8, s. 2220-2231
-
Tidskriftsartikel (refereegranskat)abstract
- Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (90) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P 1.11 10(8); OR 0.82) that was validated when combined with genotype data from a replication cohort (P 8.62 10(9); OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P 7.69 10(9); OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as 12 using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci.
|
|
| 3. |
- Henri, P., et al.
(författare)
-
Nonlinear evolution of the magnetized Kelvin-Helmholtz instability : From fluid to kinetic modeling
- 2013
-
Ingår i: Physics of Plasmas. - : AIP Publishing. - 1070-664X .- 1089-7674. ; 20:10, s. 102118-
-
Tidskriftsartikel (refereegranskat)abstract
- The nonlinear evolution of collisionless plasmas is typically a multi-scale process, where the energy is injected at large, fluid scales and dissipated at small, kinetic scales. Accurately modelling the global evolution requires to take into account the main micro-scale physical processes of interest. This is why comparison of different plasma models is today an imperative task aiming at understanding cross-scale processes in plasmas. We report here the first comparative study of the evolution of a magnetized shear flow, through a variety of different plasma models by using magnetohydrodynamic (MHD), Hall-MHD, two-fluid, hybrid kinetic, and full kinetic codes. Kinetic relaxation effects are discussed to emphasize the need for kinetic equilibriums to study the dynamics of collisionless plasmas in non trivial configurations. Discrepancies between models are studied both in the linear and in the nonlinear regime of the magnetized Kelvin-Helmholtz instability, to highlight the effects of small scale processes on the nonlinear evolution of collisionless plasmas. We illustrate how the evolution of a magnetized shear flow depends on the relative orientation of the fluid vorticity with respect to the magnetic field direction during the linear evolution when kinetic effects are taken into account. Even if we found that small scale processes differ between the different models, we show that the feedback from small, kinetic scales to large, fluid scales is negligible in the nonlinear regime. This study shows that the kinetic modeling validates the use of a fluid approach at large scales, which encourages the development and use of fluid codes to study the nonlinear evolution of magnetized fluid flows, even in the collisionless regime.
|
|
| 4. |
- Lapenta, Giovanni, et al.
(författare)
-
SWIFF : Space weather integrated forecasting framework
- 2013
-
Ingår i: Journal of Space Weather and Space Climate. - : EDP Sciences. - 2115-7251. ; 3, s. A05-
-
Tidskriftsartikel (refereegranskat)abstract
- SWIFF is a project funded by the Seventh Framework Programme of the European Commission to study the mathematical-physics models that form the basis for space weather forecasting. The phenomena of space weather span a tremendous scale of densities and temperature with scales ranging 10 orders of magnitude in space and time. Additionally even in local regions there are concurrent processes developing at the electron, ion and global scales strongly interacting with each other. The fundamental challenge in modelling space weather is the need to address multiple physics and multiple scales. Here we present our approach to take existing expertise in fluid and kinetic models to produce an integrated mathematical approach and software infrastructure that allows fluid and kinetic processes to be modelled together. SWIFF aims also at using this new infrastructure to model specific coupled processes at the Solar Corona, in the interplanetary space and in the interaction at the Earth magnetosphere.
|
|
| 5. |
- Sarri, Gianluca, et al.
(författare)
-
Dynamics of Self-Generated, Large Amplitude Magnetic Fields Following High-Intensity Laser Matter Interaction
- 2012
-
Ingår i: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 109:20, s. 205002-
-
Tidskriftsartikel (refereegranskat)abstract
- The dynamics of magnetic fields with an amplitude of several tens of megagauss, generated at both sides of a solid target irradiated with a high-intensity (∼1019 W/cm2) picosecond laser pulse, has been spatially and temporally resolved using a proton imaging technique. The amplitude of the magnetic fields is sufficiently large to have a constraining effect on the radial expansion of the plasma sheath at the target surfaces. These results, supported by numerical simulations and simple analytical modeling, may have implications for ion acceleration driven by the plasma sheath at the rear side of the target as well as for the laboratory study of self-collimated high-energy plasma jets.
|
|
| 6. |
- Sarri, G, et al.
(författare)
-
The application of laser-driven proton beams to the radiography of intense laser–hohlraum interactions
- 2010
-
Ingår i: New Journal of Physics. - : IOP Publishing Ltd. - 1367-2630. ; 12:4, s. 045006-
-
Tidskriftsartikel (refereegranskat)abstract
- Plasma expansion following the interaction of an intense laser beam with the inner surface of gold hohlraums, emulating conditions relevant to indirect drive inertial confinement fusion (ICF), has been investigated by a radiographic technique which employs a beam of laser-accelerated protons. This probing technique has made it possible to measure the electric field distribution associated with the plasma front and its propagation throughout the interior of the hohlraum with a temporal and spatial resolution of the order of a few ps and μm, respectively. The data indicate that the expanding plasma slows down approaching the opposite walls, possibly due to the interaction with x-ray heated plasma from the non-irradiated walls. The electric field at the plasma front shows a bipolar structure, suggesting the presence of ion-acoustic soliton-like structures cotraveling with the front. Data obtained using enclosed hohlraums suggest the feasibility of this type of diagnosis in gas-filled hohlraums, as currently employed in ICF experiments.
|
|
