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Träfflista för sökning "WFRF:(Młynarczyk M.) "

Search: WFRF:(Młynarczyk M.)

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1.
  • Bocchetta, Carlo, et al. (author)
  • Project Status of the Polish Synchrotron Radiation Facility Solaris
  • 2011
  • In: Proceedings of IPAC2011. - 9789290833666 ; , s. 3014-3016
  • Conference paper (other academic/artistic)abstract
    • Abstract in Undetermined The Polish synchrotron radiation facility Solaris is being built at the Jagiellonian University in Krakow. The project is based on an identical copy of the 1.5 GeV storage ring being concurrently built for the MAX IV project in Lund, Sweden. A general description of the facility is given together with a status of activities. Unique features associated with Solaris are outlined, such as infrastructure, the injector and operational characteristics.
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2.
  • Sitek, E. J., et al. (author)
  • A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene
  • 2013
  • In: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 8:4
  • Journal article (peer-reviewed)abstract
    • Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. Most patients diagnosed with posterior cortical atrophy will finally develop a typical Alzheimer's disease. However, there are a variety of neuropathological processes, which could lead towards a clinical presentation of posterior cortical atrophy. Mutations in the presenilin 1 gene, affecting the function of gamma-secretase, are the most common genetic cause of familial, early-onset Alzheimer's disease. Here we present a patient with a clinical diagnosis of posterior cortical atrophy who harbors a novel Presenilin 1 mutation (I211M). In silico analysis predicts that the mutation could influence the interaction between presenilin 1 and presenilin1 enhancer-2 protein, a protein partner within the gamma-secretase complex. These findings along with published literature support the inclusion of posterior cortical atrophy on the Alzheimer's disease spectrum.
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