Index | PMID | Date | Reference |
---|---|---|---|
1 | 9012410 | 1997 | Weber, K., Wilson, J.N., Taylor, L., Brierley, E., Johnson, M.A., Turnbull, D.M., Bindoff, L.A. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle American Journal of Human Genetics . 60 (2): 373-380 . |
2 | 9207784 | 1997 | Clark, K. M., Bindoff, L. A., Lightowlers, R. N., Andrews, R. M., Griffiths, P. G., Johnson, M. A., Brierley, E. J., Turnbull, D. M. (1997) Reversal of a mitochondrial DNA defect in human skeletal muscle Nature Genetics . 16 (3): 222-224 . |
3 | 10611123 | 2000 | Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 . |
4 | 17886296 | 2007 | Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 . |
5 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
6 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |