Index | PMID | Date | Reference |
---|---|---|---|
1 | 14967777 | 2004 | Melone, M. A., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F. M., Cotrufo, R. (2004) Revelation of a new mitochondrial DNA mutation(G12147A) in a MELAS/MERFF phenotype Archives of Neurology . 61 (2): 269-272 . |
2 | 15111688 | 2004 | Taylor, R. W., Schaefer, A. M., McDonnell, M. T., Petty, R. K., Thomas, A. M., Blakely, E. L., Hayes, C. M., McFarland, R., Turnbull, D. M. (2004) Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene Neurology . 62 (8): 1420-1423 . |
3 | 16483543 | 2006 | Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 . |
4 | 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 . |
5 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |