Index | PMID | Date | Reference |
---|---|---|---|
1 | 11715067 | 2001 | Finnila, S., Tuisku, S., Herva, R., Majamaa, K. (2001) A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL Journal of Molecular Medicine . 79 (11): 641-647 . |
2 | 17825557 | 2008 | McFarland, R., Swalwell, H., Blakely, E. L., He, L., Groen, E. J., Turnbull, D. M., Bushby, K. M., Taylor, R. W. (2008) The m.5650G>A mitochondrial tRNA(Ala) mutation is pathogenic and causes a phenotype of pure myopathy Neuromuscular Disorders . 18 (1): 63-67 . |
3 | 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 . |
4 | 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 . |