Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Cell Adhesion Molecules Research, and Genetic Neurodegenerative Diseases.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Adult <i>MTM1</i> -related myopathy carriers
MuscleViz: Free Open-Source Software for Muscle Weakness Visualization
MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement