Introduction Danon disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants of the LAMP2 gene, leading at the cellular level to impaired autophagy and subsequent apoptosis. Clinically, it manifests ...

The influenza A virus represents a significant global health threat due to its efficient transmission and the high variability of its genome, which underlies recurrent annual epidemics and, occasionally, pandemics. This ...

This dissertation focuses on the functional and molecular characterization of selected mitochondrial disorders and on the development of methods enabling non-invasive assessment of mitochondrial function. The first part ...

Huntington's disease (HD) is an incurable, progressive neurodegenerative disorder with motor, cognitive, and behavioral manifestations. Often overlooked oropharyngeal and respiratory motor impairments increase the risk of ...

Introduction: Acute early vascular complications are rare, but serious complications after kidney transplantation often result in graft loss. That is why shortening of the diagnostic process is crucial. Nowadays, renal ...