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- 2018
- Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
- 2016
- Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
- 2015
- Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
- Ultrastructural mitochondrial alterations in equine myopathies of unknown origin
- 2014
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
- Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
- 2009
- Abdominal pain and vomiting as first sign of mitochondrial disease
- Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
- 2007
- A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis