Index | PMID | Date | Reference |
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1 | 11781695 | 2001 | Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T., Schwartz, M. (2001) An mtDNA mutation, 14453G-A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome European Journal of Human Genetics . 9 (10): 805-809 . |
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 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
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 | 24642831 | 2014 | Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 . |