| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 7906985 | 1994 | Silvestri, G., Santorelli, F.M., Shanske, S., Whitley, C.B., Schimmenti, L.A., Smith, S.A., DiMauro, S. (1994) A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy Human Mutation . 3 (1): 37-43 . |
| 2 | 9841711 | 1999 | Goldstein, J.D., Shanske, S., Bruno, C., Perszyk, A.A. (1999) Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene Pediatric and Developmental Pathology . 2 (1): 78-85 . |
| 3 | 10431114 | 1999 | Bruno, C., Kirby, D.M., Koga, Y., Garavaglia, B., Duran, G., Santorelli, F.M., Shield, L.K., Xia, W., Shanske, S., Goldstein, J.D., Iwanaga, R., Akita, Y., Carrara, F., Davis, A., Zeviani, M., Thorburn, D.R., DiMauro, S. (1999) The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy Journal of Pediatrics . 135 (2 Pt 1): 197-202 . |
| 4 | 11271374 | 2001 | Iwanaga, R., Koga, Y., Aramaki, S., Kato, S., Kato, H. (2001) Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy Acta Neuropathologica (Berlin) . 101 (2): 179-184 . |
| 5 | 11768589 | 2001 | Campos, Y., Garcia, A., Eiris, J., Fuster, M., Rubio, J. C., Martin, M. A., del Hoyo, P., Pintos, E., Castro-Gago, M., Arenas, J. (2001) Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation Journal of Inherited Metabolic Disease . 24 (6): 685-687 . |
| 6 | 12609508 | 2003 | Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., Matsuishi, T. (2003) Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations Neuromuscular Disorders . 13 (3): 259-262 . |
| 7 | 12729737 | 2003 | Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 . |
| 8 | 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 . |
| 9 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 10 | 16337222 | 2006 | Ueki, I., Koga, Y., Povalko, N., Akita, Y., Nishioka, J., Yatsuga, S., Fukiyama, R., Matsuishi, T. (2006) Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis Mitochondrion . 6 (1): 29-36 . |
| 11 | 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 . |
| 12 | 20226758 | 2010 | Lebiedzinska, M., Karkucinska-Wieckowska, A., Giorgi, C., Karczmarewicz, E., Pronicka, E., Pinton, P., Duszynski, J., Pronicki, M., Wieckowski, M. R. (2010) Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders Biochimica et Biophysica Acta . 1797 (40701): 952-960 . |
| 13 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
| 14 | 23258140 | 2012 | Palecek, T., Tesarova, M., Kuchynka, P., Dytrych, V., Elleder, M., Hulkova, H., Hansikova, H., Honzik, T., Zeman, J., Linhart, A. (2012) Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male International Heart Journal . 53 (6): 383-387 . |
| 15 | 23847141 | 2013 | Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 . |
| 16 | 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 . |
| 17 | 30404982 | 2019 | Ding, Y., Xia, B. H., Zhuo, G. C., Zhang, C. J., Leng, J. H. (2019) Premature ovarian insufficiency may be associated with the mutations in mitochondrial tRNA genes Endocrine Journal . 66 (1): 81-88 . |
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| 20 | 32348839 | 2020 | Hu, C., Li, X., Zhao, L., Shi, Y., Zhou, S., Wu, B., Wang, Y. (2020) Clinical and molecular characterization of pediatric mitochondrial disorders in south of China European Journal of Medical Genetics . 63 (8): 103898 . |
| 21 | 33013660 | 2020 | Hu, C., Li, X., Zhao, L., Shi, Y., Zhou, S., Wang, Y. (2020) Clinical profile and outcome of pediatric mitochondrial myopathy in China Frontiers in Neurology . 11 (): 1000 . |