| 1. |
- Szatmari, Peter, et al.
(författare)
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
|
|
| 2. |
- Caplan, R, et al.
(författare)
-
Psychiatric disorders in Children
- 2008
-
Ingår i: Epilepsy. A Comprehensive Textbook. Engel J, Pedley TA, editors. 2nd ed.. - Philadelphia-New York : Lippincott – Raven Publishers.
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)
|
|
| 3. |
- Lönnroth, J. -S, et al.
(författare)
-
Integrated ELM modelling
- 2006
-
Ingår i: Contributions to Plasma Physics. - : Wiley. - 0863-1042 .- 1521-3986. ; 46:7-9, s. 726-738
-
Tidskriftsartikel (refereegranskat)abstract
- This paper presents a short overview of current trends and progress in integrated ELM modelling. First, the concept of integrated ELM modelling is introduced, various interpretations of it are given and the need for it is discussed. Then follows an overview of different techniques and methods used in integrated ELM modelling presented roughly according to physics approached in use and in order of increasing complexity. The paper concludes with a short discussion of open issues and future modelling requirements within the field of integrated ELM modelling.
|
|
| 4. |
- Marchesini, Stefano, et al.
(författare)
-
Massively parallel X-ray holography
- 2008
-
Ingår i: Nature Photonics. - : Springer Science and Business Media LLC. - 1749-4885 .- 1749-4893. ; 2:9, s. 560-563
-
Tidskriftsartikel (refereegranskat)abstract
- Advances in the development of free-electron lasers offer the realistic prospect of nanoscale imaging on the timescale of atomic motions. We identify X-ray Fourier-transform holography(1,2,3) as a promising but, so far, inefficient scheme to do this. We show that a uniformly redundant array(4) placed next to the sample, multiplies the efficiency of X-ray Fourier transform holography by more than three orders of magnitude, approaching that of a perfect lens, and provides holographic images with both amplitude-and phase-contrast information. The experiments reported here demonstrate this concept by imaging a nano-fabricated object at a synchrotron source, and a bacterial cell with a soft-X-ray free-electron laser, where illumination by a single 15-fs pulse was successfully used in producing the holographic image. As X-ray lasers move to shorter wavelengths we expect to obtain higher spatial resolution ultrafast movies of transient states of matter.
|
|
| 5. |
- Strachan, J. D., et al.
(författare)
-
Modelling of carbon migration during JET C-13 injection experiments
- 2008
-
Ingår i: Nuclear Fusion. - : IOP Publishing. - 0029-5515 .- 1741-4326. ; 48:10
-
Tidskriftsartikel (refereegranskat)abstract
- JET has performed two dedicated carbon migration experiments on the final run day of separate campaigns ( 2001 and 2004) using (CH4)-C-13 methane injected into repeated discharges. The EDGE2D/NIMBUS code modelled the carbon migration in both experiments. This paper describes this modelling and identifies a number of important migration pathways: ( 1) deposition and erosion near the injection location, ( 2) migration through the main chamber SOL, (3) migration through the private flux region (PFR) aided by E x B drifts and ( 4) neutral migration originating near the strike points. In H-Mode, type I ELMs are calculated to influence the migration by enhancing erosion during the ELM peak and increasing the long-range migration immediately following the ELM. The erosion/re-deposition cycle along the outer target leads to a multistep migration of C-13 towards the separatrix which is called 'walking'. This walking created carbon neutrals at the outer strike point and led to 13C deposition in the PFR. Although several migration pathways have been identified, quantitative analyses are hindered by experimental uncertainty in divertor leakage, and the lack of measurements at locations such as gaps and shadowed regions.
|
|
| 6. |
|
|
