| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1514779 | 1992 | Goto, Y., Tojo, M., Tohyama, J., Horai, S., Nonaka, I. (1992) A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy Annals of Neurology . 31 (6): 672-675 . |
| 2 | 9003864 | 1997 | Ogle, R.F., Christodoulou, J., Fagan, E., Blok, R.B., Kirby, D.M., Seller, K.L., Dahl, H.H., Thorburn, D.R. (1997) Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin Journal of Pediatrics . 130 (1): 138-145 . |
| 3 | NA | 1999 | Grünewald, T., Porschke, H., Goebel, H., Reichmann, H., Seibel, P. (1999) Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNA (Leu(UUR)) gene Drug Development Research . 46 (1): 80-85 . |
| 4 | 12160969 | 2002 | Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 . |
| 5 | 12729737 | 2003 | Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 . |
| 6 | 14639582 | 2003 | Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A., Arenas, J. (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients Muscle and Nerve . 28 (6): 690-695 . |
| 7 | 15466077 | 2004 | Opdal, S. H., Rognum, T. O. (2004) The sudden infant death syndrome gene: does it exist? Pediatrics . 114 (4): e506-512 . |
| 8 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 9 | 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 . |
| 10 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
| 11 | 28716227 | 2017 | Lu, Y., Zhao, D., Yao, S., Wu, S., Hong, D., Wang, Q., Liu, J., Smeitink, J. A. M., Yuan, Y., Wang, Z. (2017) Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy Journal of the Neurological Sciences . 379 (): 137-143 . |
| 12 | 29161289 | 2017 | Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 . |
| 13 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |
| 14 | 33259687 | 2021 | Campbell, T., Lou, X., Slone, J., Brown, J., Bromwell, M., Liu, J., Bai, R., Haude, K., Balog, A., Cui, H., Zou, W., Yang, L., Al-Beshri, A., Huang, T. (2021) Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy Human Mutation . 42 (2): 177-188 . |
| 15 | 33380464 | 2021 | Karasik, A., Wilhelm, C. A., Fierke, C. A., Koutmos, M. (2021) Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P RNA . 27 (4): 420-432 . |