| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1677065 | 1991 | Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V., DiDonato, S. (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) Lancet . 338 (8760): 143-147 . |
| 2 | 8210299 | 1993 | Sweeney, M. G., Brockington, M., Weston, M. J., Morgan-Hughes, J. A., Harding, A. E. (1993) Mitochondrial DNA transfer RNA mutation Leu(UUR) A-G 3260: a second family with myopathy and cardiomyopathy Quarterly Journal of Medicine . 86 (7): 435-438 . |
| 3 | 8132749 | 1994 | Mariotti, C., Tiranti, V., Carrara, F., Dallapiccola, B., DiDonato, S., Zeviani, M. (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNALeu(UUR) mutation associated with maternally inherited myopathy and cardiomyopathy Journal of Clinical Investigation . 93 (3): 1102-1107 . |
| 4 | 7599217 | 1995 | Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 . |
| 5 | 8941275 | 1996 | Nishino, I., Komatsu, M., Kodama, S., Horai, S., Nonaka, I., Goto, Y. (1996) The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) Muscle and Nerve . 19 (12): 1603-1604 . |
| 6 | 9744809 | 1998 | Rossmanith, W. and Karwan, R. M. (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases FEBS Letters . 433 (3): 269-274 . |
| 7 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 8 | 16141288 | 2005 | Kramer, K. A., Oglesbee, D., Hartman, S. J., Huey, J., Anderson, B., Magera, M. J., Matern, D., Rinaldo, P., Robinson, B. H., Cameron, J. M., Hahn, S. H. (2005) Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts Clinical Chemistry . 51 (11): 2110-2116 . |
| 9 | 18165269 | 2008 | Lim, K. S., Naviaux, R. K., Wong, S., Haas, R. H. (2008) Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation Journal of Molecular Diagnostics . 10 (1): 102-108 . |
| 10 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
| 11 | 19036942 | 2009 | Menzies, K. J., Robinson, B. H., Hood, D. A. (2009) Effect of thyroid hormone on mitochondrial properties and oxidative stress in cells from patients with mtDNA defects American Journal of Physiology. Cell Physiology . 296 (2): C355-C362 . |
| 12 | 19631764 | 2009 | De Luca, C., Zhou, Y., Montanari, A., Morea, V., Oliva, R., Besagni, C., Bolotin-Fukuhara, M., Frontali, L., Francisci, S. (2009) Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors Mitochondrion . 9 (6): 408-417 . |
| 13 | 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 . |
| 14 | 20965148 | 2010 | Connolly, B. S., Feigenbaum, A. S., Robinson, B. H., Dipchand, A. I., Simon, D. K., Tarnopolsky, M. A. (2010) MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation Biochemical and Biophysical Research Communications . 402 (2): 443-447 . |
| 15 | 24656211 | 2014 | Steriade, C., Andrade, D. M., Faghfoury, H., Tarnopolsky, M. A., Tai, P. (2014) Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet Pediatric Neurology . 50 (5): 498-502 . |
| 16 | 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 . |
| 17 | 32167396 | 2020 | Bulduk, B. K., Kilic, H. B., Bekircan-Kurt, C. E., Haliloglu, G., Erdem Ozdamar, S., Topaloglu, H., Kocaefe, Y. C. (2020) A novel amplification-refractory mutation system-PCR strategy to screen MT-TL1 pathogenic variants in patient repositories Genetic Testing and Molecular Biomarkers . 24 (3): 165-170 . |
| 18 | 33763872 | 2021 | Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 . |