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Träfflista för sökning "WFRF:(Bras J) srt2:(2010-2014)"

Sökning: WFRF:(Bras J) > (2010-2014)

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1.
  • Bras, Jose, et al. (författare)
  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
  • 2014
  • Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 23:23, s. 6139-6146
  • Tidskriftsartikel (refereegranskat)abstract
    • Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
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2.
  • Manyuhina, Oksana, et al. (författare)
  • Doubly periodic instability pattern in a smectic-A liquid crystal
  • 2013
  • Ingår i: Physical Review E. Statistical, Nonlinear, and Soft Matter Physics. - : American Physical Society. - 1539-3755 .- 1550-2376. ; 87:5, s. 050501-
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the observation of a doubly periodic surface defect pattern in the liquid crystal 8CB, formed during the nematic-smectic-A phase transition. The pattern results from the antagonistic alignment of the 8CB molecules, which is homeotropic at the surface and planar in the bulk of the sample cell. Within the continuum Landau-de Gennes theory of smectic liquid crystals, we find that the long period (approximate to 10 mu m) of the pattern is given by the balance between the surface anchoring and the elastic energy of curvature wall defects. The short period (approximate to 10 mu m) we attribute to a saddle-splay distortion, leading to a nonzero Gaussian curvature and causing the curvature walls to break up.
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