| Index | PMID | Date | Reference |
|---|---|---|---|
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| 2 | 7804130 | 1994 | Sato, W., Hayasaka, K., Shoji, Y., Takahashi, T., Takada, G., Saito, M., Fukawa, O., Wachi, E. (1994) A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episodes (MELAS) Biochemistry and Molecular Biology International (Sydney) . 33 (6): 1055-1061 . |
| 3 | 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 . |
| 4 | 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 . |
| 5 | 10953207 | 2000 | Amemiya, S., Hamamoto, M., Goto, Y., Komaki, H., Nishino, I., Nonaka, I., Katayama, Y. (2000) Psychosis and progressing dementia: presenting features of a mitochondriopathy Neurology . 55 (4): 600-601 . |
| 6 | 12972383 | 2003 | Jeppesen, T. D., Schwartz, M., Hansen, K., Danielsen, E. R., Wibrand, F., Vissing, J. (2003) Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA Journal of the Neurological Sciences . 214 (40545): 17-20 . |
| 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 | 16384802 | 2006 | Fattal, O., Budur, K., Vaughan, A. J., Franco, K. (2006) Review of the literature on major mental disorders in adult patients with mitochondrial diseases Psychosomatics . 47 (1): 1-7 . |
| 9 | 16483543 | 2006 | Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 . |
| 10 | 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 . |
| 11 | 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 . |
| 12 | 19941338 | 2010 | Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 . |
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| 14 | 23056349 | 2012 | Sobenin, I. A., Sazonova, M. A., Ivanova, M. M., Zhelankin, A. V., Myasoedova, V. A., Postnov, A. Y., Nurbaev, S. D., Bobryshev, Y. V., Orekhov, A. N. (2012) Mutation C3256T of mitochondrial genome in white blood cells: novel genetic marker of atherosclerosis and coronary heart disease PLoS One . 7 (10): e46573 . |
| 15 | 23376095 | 2013 | Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 . |
| 16 | 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 . |
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| 18 | 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 . |
| 19 | 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 . |
| 20 | 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 . |
| 21 | 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 . |