Index | PMID | Date | Reference |
---|---|---|---|
1 | 8829635 | 1996 | Manfredi, G., Schon, E.A., Bonilla, E., Moraes, C.T., Shanske, S., DiMauro, S. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy Human Mutation . 7 (2): 158-163 . |
2 | 9185178 | 1997 | Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M.G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy Neuromuscular Disorders . 7 (3): 156-159 . |
3 | 9384601 | 1998 | Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 . |
4 | 11335700 | 2001 | Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 . |
5 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
6 | 16172508 | 2006 | Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L., Oefner, P. J. (2006) The role of selection in the evolution of human mitochondrial genomes Genetics . 172 (1): 373-387 . |
7 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
8 | 17241783 | 2007 | Scuderi, C., Borgione, E., Musumeci, S., Elia, M., Castello, F., Fichera, M., Davidzon, G., DiMauro, S. (2007) Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene Neuromuscular Disorders . 17 (3): 258-261 . |
9 | 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 . |
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 | 29976239 | 2018 | Tseng, C. C., Chen, C. J., Yen, J. H., Huang, H. Y., Chang, J. G., Chang, S. J., Liao, W. T. (2018) Next-generation sequencing profiling of mitochondrial genomes in gout Arthritis Research and Therapy . 20 (1): 137 . |
12 | 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 . |