Index | PMID | Date | Reference |
---|---|---|---|
1 | 8155739 | 1994 | Houshmand, M., Larsson, N.G., Holme, E., Oldfors, A., Tulinius, M.H., Andersen, O. (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1226 (1): 49-55 . |
2 | 16150714 | 2005 | Merriwether, D. A., Hodgson, J. A., Friedlaender, F. R., Allaby, R., Cerchio, S., Koki, G., Friedlaender, J. S. (2005) Ancient mitochondrial M haplogroups identified in the Southwest Pacific Proceedings of the National Academy of Sciences of the United States of America . 102 (37): 13034-13039 . |
3 | 19720722 | 2009 | Horvath, R., Kemp, J. P., Tuppen, H. A., Hudson, G., Oldfors, A., Marie, S. K., Moslemi, A. R., Servidei, S., Holme, E., Shanske, S., Kollberg, G., Jayakar, P., Pyle, A., Marks, H. M., Holinski-Feder, E., Scavina, M., Walter, M. C., Coku, J., Gunther-Scholz, A., Smith, P. M., McFarland, R., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Hirano, M., Lochmuller, H., Taylor, R. W., Chinnery, P. F., Tulinius, M., DiMauro, S. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Brain . 132 (Pt 11): 3165-3174 . |
4 | 21194154 | 2010 | Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I., Goto, Y. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study Annals of Neurology . 68 (6): 845-854 . |
5 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
6 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
7 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
8 | 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 . |