| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8923013 | 1996 | Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E.A. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy Human Molecular Genetics . 5 (11): 1835-1840 . |
| 2 | 9361028 | 1997 | Shoubridge, E.A., Johns, T., Karpati, G. (1997) Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy Human Molecular Genetics . 6 (13): 2239-2242 . |
| 3 | 10332036 | 1999 | Taivassalo, T., Fu, K., Johns, T., Arnold, D., Karpati, G., Shoubridge, E.A. (1999) Gene shifting: a novel therapy for mitochondrial myopathy Human Molecular Genetics . 8 (6): 1047-1052 . |
| 4 | 12398839 | 2002 | Karadimas, C. L., Salviati, L., Sacconi, S., Chronopoulou, P., Shanske, S., Bonilla, E., De Vivo, D. C., DiMauro, S. (2002) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA Neuromuscular Disorders . 12 (9): 865-868 . |
| 5 | 18977334 | 2009 | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 . |
| 6 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
| 7 | 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 . |
| 8 | 23395464 | 2013 | Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Bobryshev, Y. V., Orekhov, A. N. (2013) Changes of mitochondria in atherosclerosis: possible determinant in the pathogenesis of the disease Atherosclerosis . 227 (2): 283-288 . |
| 9 | 23631826 | 2013 | Wang, M., Zhou, X. L., Liu, R. J., Fang, Z. P., Zhou, M., Eriani, G., Wang, E. D. (2013) Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations Biochemical Journal . 453 (3): 455-465 . |
| 10 | 23874496 | 2013 | Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., Orekhov, A. N. (2013) Association of mitochondrial genetic variation with carotid atherosclerosis PLoS One . 8 (7): e68070 . |
| 11 | 25834827 | 2015 | Sazonova, M. A., Sinyov, V. V., Barinova, V. A., Ryzhkova, A. I., Zhelankin, A. V., Postnov, A. Y., Sobenin, I. A., Bobryshev, Y. V., Orekhov, A. N. (2015) Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta BioMed Research International . 2015 (): 825468 . |
| 12 | 28951770 | 2017 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 . |
| 13 | 29670672 | 2018 | Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 . |
| 14 | 31540444 | 2019 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Sazonova, M. D., Khasanova, Z. B., Shkurat, T. P., Karagodin, V. P., Orekhov, A. N., Sobenin, I. A. (2019) Creation of cybrid Cultures containing mtDNA mutations m.12315G>A and m.1555G>A, associated with atherosclerosis Biomolecules . 9 (9): 499 . |
| 15 | 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 . |