- Muscle histology. Muscular Dystrophies, Mitochondrial Disorders, Inflammatory myopathies (myositis).
- The pathomechanism of myotonic dystrophy types 1 and 2 (DM1-2) is investigated by quantitative histological methods, immunofluorescence and in situ hybridization.
- Investigation of the pathomechanism of muscle atrophy by immuno-histochemical, molecular biological methods.
- Investigation of mitochondrial damage in muscle diseases by enzyme histochemical and molecular biological methods.
Peripheral nervous diseases.
- Clinical diagnosis of inflammatory and hereditary neuropathies.
Skin biopsy: diagnosis of thin-fiber neuropathy by immunohistochemistry.
Biomarkers in neuromuscular and neurodegenerative diseases.
- Serum and CSF biomarkers (FGF21 and GDF15)
- Alpha-synuclein in peripheral tissues
- Alpha synuclein and p-Tau in serum and CSF samples
- SNCA SNP investigation in Parkinson disease
- Serum biomarkers of the oxidative stress in Parkinson disease
- Measurement of neurofilament light chain (NFL) in CSF and sera in subtypes of patients with amyotrophic lateralsclerosis (ALS)
Differential diagnosis of hereditary muscle diseases, orientation of genetic tests
Establishment of registers for muscle diseases
Histological and molecular diagnostics of myotonic dystrophy type 1 and 2.
Investigation of biomarkers in neuromuscular and neurodegenerative disorders: (fibroblast growth factor 21 (FGF21), growth differentiation factor 15 (GDF15), neurofilament light chain (NFL), synuclein-alpha, PGP 9.5) in histological and blood samples to (1) improve the diagnostic safety, (2) definition of subgroups regarding to the disease severity and progression.