Index | PMID | Date | Reference |
---|---|---|---|
1 | 11335700 | 2001 | Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 . |
2 | 12402350 | 2002 | Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N., Comi, G.P. (2002) A collection of 33 novel human mtDNA homoplasmic variants Human Mutation . 20 (5): 409 . |
3 | 12798797 | 2003 | Campos, Y., Garcia, A., del Hoyo, P., Jara, P., Martin, M. A., Rubio, J. C., Berbel, A., Barbera, J. R., Ribacoba, R., Astudillo, A., Cabello, A., Ricoy, J. R., Arenas, J. (2003) Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes Neuromuscular Disorders . 13 (5): 416-420 . |
4 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
5 | 15870203 | 2005 | Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 . |
6 | 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 . |