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| 2 | 11406419 | 2001 | Finnila, S., Hassinen, I. E., Majamaa, K. (2001) Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region Mutation Research . 458 (40545): 31-39 . |
| 3 | 12436196 | 2002 | Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 . |
| 4 | 16044424 | 2005 | Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Tear-Fahnehjelm, K., von Dobeln, U., Majamaa, K., Larsson, N. G. (2005) Secondary metabolic effects in complex I deficiency Annals of Neurology . 58 (4): 544-552 . |
| 5 | 16050984 | 2005 | Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion . 5 (3): 194-199 . |
| 6 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
| 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 | 18194667 | 2008 | Liu, Y., Li, Z., Yang, L., Wang, S., Guan, M. X. (2008) The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension Biochemical and Biophysical Research Communications . 368 (1): 18-22 . |
| 9 | 18261986 | 2008 | Chaig, M. R., Zernotti, M. E., Soria, N. W., Romero, O. F., Romero, M. F., Gerez, N. M. (2008) A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment Biochemical and Biophysical Research Communications . 368 (3): 631-636 . |
| 10 | 18477584 | 2008 | Malyarchuk, B., Grzybowski, T., Derenko, M., Perkova, M., Vanecek, T., Lazur, J., Gomolcak, P., Tsybovsky, I. (2008) Mitochondrial DNA phylogeny in Eastern and Western Slavs Molecular Biology and Evolution . 25 (8): 1651-1658 . |
| 11 | 18611982 | 2008 | Yao, Y. G., Kong, Q. P., Salas, A., Bandelt, H. J. (2008) Pseudomitochondrial genome haunts disease studies Journal of Medical Genetics . 45 (12): 769-772 . |
| 12 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 13 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 14 | 31152278 | 2020 | Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K., Martikainen, M. H. (2020) Mitochondrial DNA variation in sudden cardiac death: a population-based study International Journal of Legal Medicine . 134 (1): 39-44 . |