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- 2014
- Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy
- Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
- Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
- Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication
- Did lightning strike twice?
- Extremely high mutation load of the mitochondrial 8993T>G mutation in a newborn: implications for prognosis and family planning decisions
- 2013
- A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
- Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells
- Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
- Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis