Marek Migdał

Mitochondrial dysfunction: mechanisms and advances in therapy

Contributing roles of mitochondrial dysfunction and hepatocyte apoptosis in liver diseases through oxidative stress, post-translational modifications, inflammation, and intestinal barrier dysfunction

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency