| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | NA | 1993 | Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A., Wallace, D. C. (1993) A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy American Journal of Human Genetics . 53 (Suppl.): 949 . |
| 2 | 8366098 | 1993 | Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M., Weber, K. (1993) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism Journal of Biological Chemistry . 268 (26): 19559-19564 . |
| 3 | 7635294 | 1995 | Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 . |
| 4 | 7735877 | 1995 | Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A., Turnbull, D. M., Bindoff, L. A. (1995) Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients Brain . 118 (Pt 2): 339-57 . |
| 5 | 15351426 | 2004 | van den Bosch, B. J., de Coo, I. F., Hendrickx, A. T., Busch, H. F., de Jong, G., Scholte, H. R., Smeets, H. J. (2004) Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene Neuromuscular Disorders . 14 (10): 683-688 . |
| 6 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 7 | 16050991 | 2005 | Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., Kofler, B. (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion . 5 (4): 282-296 . |
| 8 | 17130166 | 2006 | Maniura-Weber, K., Helm, M., Engemann, K., Eckertz, S., Mollers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J. C., Lightowlers, R. N., Bindoff, L. A., Wiesner, R. J. (2006) Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene Nucleic Acids Research . 34 (22): 6404-6415 . |
| 9 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 10 | 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 . |
| 11 | 26741492 | 2016 | Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., Tamaru, S., Borna, N. N., Banshoya, K., Aigaki, T., Sato-Miyata, Y., Ohnuma, K., Suzuki, T., Nagao, A., Maehata, H., Matsuda, F., Higasa, K., Nagasaki, M., Yasuda, J., Yamamoto, M., Fushimi, T., Shimura, M., Kaiho-Ichimoto, K., Harashima, H., Yamazaki, T., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genetics . 12 (1): e1005679 . |
| 12 | 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 . |
| 13 | 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 . |
| 14 | 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 . |
| 15 | 34991096 | 2022 | Qi, Y., Wu, Z., Bai, Y., Jiao, Y., Li, P. (2022) Screening for mitochondrial tRNA mutations in 318 patients with dilated cardiomyopathy Human Heredity . 87 (1): 1-11 . |