Key Research Interests

1. Neuromuscular Disease Pathophysiology:
   We investigate the mechanisms underlying various neuromuscular disorders in childhood and adulthood. This includes exploring disease progression in rare neuromuscular conditions to identify potential diagnostic markers and therapeutic targets.
2. Molecular and Cellular Mechanisms:
   Our research focuses on age-related molecular pathways and cellular processes driving neuromuscular diseases. We study genetic factors influencing disease onset, sarcolemmal dysfunction and autophagy in muscle disorders, and the role of proteostasis and metabolism in conditions like Pompe disease.
3. Collaborative Research on Muscle Composition and Function:
   Through interdisciplinary collaborations, we study age-related differences in skeletal and cardiac muscle composition and function and conduct structural analysis of pediatric cardiomyopathies associated with neuromuscular disorders or selective cardiac diseases.