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| 2 | 11820805 | 2002 | Vives-Bauza, C., Andreu, A. L., Manfredi, G., Beal, M. F., Janetzky, B., Gruenewald, T. H., Lin, M. T. (2002) Sequence analysis of the entire mitochondrial genome in Parkinson's disease Biochemical and Biophysical Research Communications . 290 (5): 1593-1601 . |
| 3 | 11938495 | 2002 | Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 . |
| 4 | 16458854 | 2006 | Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P., Estivill, X. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochemical and Biophysical Research Communications . 341 (4): 950-957 . |
| 5 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
| 6 | 17021933 | 2006 | Bandelt, H. J., Salas, A., Bravi, C. M. (2006) What is a 'novel' mtDNA mutation - and does 'novelty' really matter? Journal of Human Genetics . 51 (12): 1073-1082 . |
| 7 | 17406640 | 2007 | Puomila, A., Hamalainen, P., Kivioja, S., Savontaus, M. L., Koivumaki, S., Huoponen, K., Nikoskelainen, E. (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland European Journal of Human Genetics . 15 (10): 1079-1089 . |
| 8 | 18495510 | 2008 | Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H., Wong, L. J. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism . 94 (4): 485-490 . |
| 9 | 18790089 | 2008 | Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H., Van Laer, L. (2008) Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients Mitochondrion . 8 (40669): 377-382 . |
| 10 | 18851951 | 2008 | Elstner, M., Schmidt, C., Zingler, V. C., Prokisch, H., Bettecken, T., Elson, J. L., Rudolph, G., Bender, A., Halmagyi, G. M., Brandt, T., Strupp, M., Klopstock, T. (2008) Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy Biochemical and Biophysical Research Communications . 377 (2): 379-383 . |
| 11 | 19371214 | 2009 | Rydzanicz, M., Wrobel, M., Cywinska, K., Froehlich, D., Gawecki, W., Szyfter, W., Szyfter, K. (2009) Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes Genetic Testing and Molecular Biomarkers . 13 (2): 167-172 . |
| 12 | 20353758 | 2010 | Rydzanicz, M., Wrobel, M., Pollak, A., Gawecki, W., Brauze, D., Kostrzewska-Poczekaj, M., Wojsyk-Banaszak, I., Lechowicz, U., Mueller-Malesinska, M., Oldak, M., Ploski, R., Skarzynski, H., Szyfter, K. (2010) Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss Biochemical and Biophysical Research Communications . 395 (1): 116-121 . |
| 13 | 23563965 | 2013 | Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 . |
| 14 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
| 15 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 16 | 24667788 | 2015 | Zhang, J., Zhang, Z. X., Du, P. C., Zhou, W., Wu, S. D., Wang, Q. L., Chen, C., Shi, Q., Chen, C., Gao, C., Tian, C., Dong, X. P. (2015) Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease European Journal of Human Genetics . 23 (1): 86-91 . |
| 17 | 33064405 | 2020 | Vellers, H. L., Verhein, K. C., Burkholder, A. B., Lee, J., Kim, Y., Lightfoot, J. T., Shi, M., Weinberg, C. R., Sarzynski, M. A., Bouchard, C., Kleeberger, S. R. (2020) Association between mitochondrial DNA sequence variants and V O2 max trainability Medicine and Science in Sports and Exercise . 52 (11): 2303-2309 . |