Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Cardiomyopathy and Myosin Studies, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, and Nuclear Structure and Function.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity