Now showing items 1-2 of 2

    • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 

      Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL (2019-05-02)
      The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight ...
    • Scanning electron microscopy for blood micro-crystals in aortic stenosis patients. 

      Wald, DS; Tsolaki, E; Bestwick, JP; Bertazzo, S (2018)
      BACKGROUND: Micro-crystals of calcium phosphate have been detected on the aortic valve of patients with aortic stenosis using scanning electron microscopy. It is not known whether crystalisation is specific to heart valve ...