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Showing 1 to 4 of 4 for “"Central core disease"”.

  1. Molekulargenetische Analyse der Central Core Disease

    Wolz, WernerUniversität Würzburg

    Central Core Disease (CCD) ist eine neuromuskuläre Erkrankung aus dem Formenkreis der kongenitalen Myopathien. Die Symptomatik umfaßt eine verzögerte motorische Entwicklung, eine nicht bis schwach progrediente Schwäche der Extremitätenmuskulatur mit Betonung der distalen, unteren Gliedmaßen sowie …

    wurz-thes Repository record

  2. Characterisation of calcium kinetics in muscle cells of mouse models of malignant hyperthermia and central core disease

    Braig, Angela YvonneUniversität Ulm

    ulm-diss Repository record

  3. Malignant hyperthermia: allele specific expression and mutation screening of the ryanodine receptor 1 : a dissertation presented to Massey University in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry

    Grievink, HilbertMassey University2009

    … gene, for mutations associated with MH and/or central core disease (CCD).

    massey Repository record

  4. THE ROLE OF ATP AND FK-506 BINDING PROTEIN IN THE COUPLED GATING OF SKELETAL RYANODINE RECEPTORS

    Neumann, Jacob Trevor

    … disorders including malignant hyperthermia and central core disease. Therefore, investigating the mechanisms that control RyR1 function can help identify how these mutations cause deleterious Ca<super>2+</super> handling. Currently, most published research on RyR1s gating utilizes single RyR1 …

    siu-theses Repository record