- Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
- Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
- A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Did lightning strike twice?
- Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
- Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
- A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
Neonatal pulmonary haemorrhage: presentation of a medium-chain acyl-CoA dehydrogenase deficiency
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- Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects