MITOMAP References for RNA Mutation T14674C

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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 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 .
3 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 .
4 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 .
5 NA 2016 van Oven, M., Kayser, M. (2016) . . 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 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 .
8 32970680 2020 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .
9 33128823 2020 Hathazi, D., Griffin, H., Jennings, M. J., Giunta, M., Powell, C., Pearce, S. F., Munro, B., Wei, W., Boczonadi, V., Poulton, J., Pyle, A., Calabrese, C., Gomez-Duran, A., Schara, U., Pitceathly, R. D. S., Hanna, M. G., Joost, K., Cotta, A., Paim, J. F., Navarro, M. M., Duff, J., Mattman, A., Chapman, K., Servidei, S., Della Marina, A., Uusimaa, J., Roos, A., Mootha, V., Hirano, M., Tulinius, M., Giri, M., Hoffmann, E. P., Lochmuller, H., DiMauro, S., Minczuk, M., Chinnery, P. F., Muller, J. S., Horvath, R. (2020) Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency The EMBO Journal . 39 (23): e105364 .