Index | PMID | Date | Reference |
---|---|---|---|
1 | 1645537 | 1991 | Yoon, K. L., Aprille, J. R., Ernst, S. G. (1991) Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency Biochemical and Biophysical Research Communications . 176 (3): 1112-1115 . |
2 | 2043137 | 1991 | Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Ohno, K., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., Hashiba, K. (1991) Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy Biochemical and Biophysical Research Communications . 177 (1): 518-525 . |
3 | 1379415 | 1992 | Brown, M. D., Torroni, A., Shoffner, J. M., Wallace, D. C. (1992) Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy American Journal of Human Genetics . 51 (2): 446-447 . |
4 | 10680807 | 1999 | Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 . |
5 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
6 | 27498855 | 2016 | Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X., Jin, L. (2016) MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders Scientific Reports . 6 (): 31083 . |
7 | 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 . |