Index | PMID | Date | Reference |
---|---|---|---|
1 | 12756609 | 2003 | Simon, D. K., Friedman, J., Breakefield, X. O., Jankovic, J., Brin, M. F., Provias, J., Bressman, S. B., Charness, M. E., Tarsy, D., Johns, D. R., Tarnopolsky, M. A. (2003) A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia Neurogenetics . 4 (4): 199-205 . |
2 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
3 | 18427623 | 2007 | Levin, L. A. (2007) Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy Transactions of the American Ophthalmological Society . 105 (-): 379-391 . |
4 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
5 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |