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Search results for: TRINUCLEOTIDE REPEAT EXPANSION

  • Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats

    Publication

    - Scientific Reports - Year 2024

    Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington’s Disease...

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  • Structure and thermal expansion of liquid bismuth

    Publication

    - MATERIALS SCIENCE-POLAND - Year 2015

    Experimental structural data for liquid Bi were used for estimation of the main structure parameters as well as the thermal expansion coefficient both in supercooled and superheated temperature ranges. It was shown that the equilibrium melt had a positive thermal expansion coefficient within a temperature range upon melting and a negative one at higher temperatures. The former was related to structure changes upon melting, whereas...

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  • Thermal and Chemical Expansion in Proton Ceramic Electrolytes and Compatible Electrodes

    Publication

    - Crystals - Year 2018

    This review paper focuses on the phenomenon of thermochemical expansion of two specific categories of conducting ceramics: Proton Conducting Ceramics (PCC) and Mixed Ionic-Electronic Conductors (MIEC). The theory of thermal expansion of ceramics is underlined from microscopic to macroscopic points of view while the chemical expansion is explained based on crystallography and defect chemistry. Modelling methods are used to predict...

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  • Cavity-expansion approximation for projectile impact and penetration into sand

    Publication
    • V. Kotov
    • A. Bragov
    • V. Balandin
    • L. Igumnov
    • A. Lomunov
    • V. Eremeev
    • A. Cazzani

    - CONTINUUM MECHANICS AND THERMODYNAMICS - Year 2022

    A one-dimensional problem of a spherical cavity expanding at a constant velocity from zero initial radius in an infinite granular medium, which has the first-kind self-similar solution, is considered. We are solving this dynamic spherical cavity-expansion problem to model rigid spheres penetrating into a granular media. Elastic–plastic deformation of the granular media is described in a barotropic approximation, using the high-pressure...

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  • Subcritical Thermodynamic Cycles with Organic Medium and Isothermal Expansion

    Publication

    The efffciencies of the Organic Rankine Cycle (ORC) are not very high and only very seldom do they exceed 20%. The increase and optimization of initial parameters and certain modifications of the thermodynamic cycle make it possible to overcome these drawbacks. A new modified cycle has been described and analyzed in detail in the paper. Similarly to the Ericsson cycle for gas turbines, isothermal expansion in the turbine is suggested...

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