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- 2017
- POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism
- 2016
- 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?
- 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
- 2015
- TMEM70 deficiency: long-term outcome of 48 patients
- Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease
- Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
- Cellular heterogeneity in the level of mtDNA heteroplasmy in mouse embryonic stem cells