Methodological Approaches

Our research employs a comprehensive set of methodologies to investigate the mechanisms underlying neuromuscular disorders:

• Histological and Ultrastructural Analysis:
  We use imaging techniques, including light microscopy, fluorescence microscopy, and transmission electron microscopy (TEM) as well as advanced morphometric techniques, to examine muscle and nerve tissues in detail, identifying structural and ultrastructural changes associated with neuromuscular diseases.
• Immunohistochemistry/fluorescence:
  Antibody-based staining techniques are employed to analyze the expression and localization of specific proteins, providing critical insights into the pathological mechanisms of muscle and nerve disorders.
• Molecular and Genetic Diagnostics:
  Our approach includes the application of molecular biology tools to detect genetic mutations and chromosomal abnormalities, enabling the identification of disease- and age-specific molecular signatures and potential therapeutic targets.
• Metabolic and Proteostasis Studies:
  We explore muscle cell dysfunctions and impaired proteostasis using multiomic analysis and bioinformatic approaches with a focus on sarcomeric dynamics and autophagy and their contribution to neuromuscular disease progression, such as in Pompe disease.
• Clinical Translation:
  Integrating diagnostic data with genetic and molecular findings, we bridge research discoveries with clinical applications, aiming to refine diagnostic tools and develop innovative therapeutic approaches for neuromuscular disorders.