- Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy. Antioxidants & redox signaling. 2011 Academic Article GET IT
- Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import. Molecular biology of the cell. 2010 Academic Article GET IT
- Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA. Neuroscience Letters. 2006 Academic Article GET IT
- Mitochondrial DNA abnormalities and autistic spectrum disorders. The Journal of Pediatrics. 2004 Academic Article GET IT
- Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochemical and biophysical research communications. 2002 Academic Article GET IT
- Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis. Diabetes. 1999 Academic Article GET IT
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
Annals of Neurology.
Times cited: 75
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Times cited: 65