Index | PMID | Date | Reference |
---|---|---|---|
1 | 23696415 | 2013 | Blakely, E. L., Yarham, J. W., Alston, C. L., Craig, K., Poulton, J., Brierley, C., Park, S.-M., Dean, A., Xuereb, J. H., Anderson, K. N., Compston, A., Allen, C., Sharif, S., Enevoldson, P., Wilson, M., Hammans, S. R., Turnbull, D. M., McFarland, R., Taylor, R. W. (2013) Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease Human Mutation . 34 (9): 1260-1268 . |
2 | 23847141 | 2013 | Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 . |