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- 2017
- POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism
- 2016
- Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children: a study of 19 cases
- Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example
- RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
- Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
- How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?
- 2015
- Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)
- Cellular heterogeneity in the level of mtDNA heteroplasmy in mouse embryonic stem cells
- A new pathogenic mutation in the iron-sulfur cluster assembly gene IBA57 causes impaired protein function leading to massive early leukoencephalopathy
- Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease