| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 9771776 | 1998 | Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity Journal of Neurology, Neurosurgery and Psychiatry . 65 (4): 512-517 . |
| 2 | 11349229 | 2001 | Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 . |
| 3 | 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 . |
| 4 | 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 . |
| 5 | 12802679 | 2003 | Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 . |
| 6 | 15922297 | 2005 | Zhadanov, S. I., Atamanov, V. V., Zhadanov, N. I., Oleinikov, O. V., Osipova, L. P., Schurr, T. G. (2005) A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family Biochemical and Biophysical Research Communications . 332 (4): 1115-1121 . |
| 7 | 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 . |
| 8 | 18537605 | 2008 | Maasz, A., Komlosi, K., Hadzsiev, K., Szabo, Z., Willems, P. J., Gerlinger, I., Kosztolanyi, G., Mehes, K., Melegh, B. (2008) Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation Current Medicinal Chemistry . 15 (13): 1257-1262 . |
| 9 | 19076426 | 2008 | Khusnutdinova, E., Gilyazova, I., Ruiz-Pesini, E., Derbeneva, O., Khusainova, R., Khidiyatova, I., Magzhanov, R., Wallace, D. C. (2008) A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease Annals of the New York Academy of Sciences . 1147 (-): 1-20 . |
| 10 | 19062322 | 2009 | Wang, J., Brautbar, A., Chan, A. K., Dzwiniel, T., Li, F. Y., Waters, P. J., Graham, B. H., Wong, L. J. (2009) Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family Molecular Genetics and Metabolism . 96 (2): 59-65 . |
| 11 | 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 . |
| 12 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 13 | 24467713 | 2014 | Summerer, M., Horst, J., Erhart, G., Weissensteiner, H., Schonherr, S., Pacher, D., Forer, L., Horst, D., Manhart, A., Horst, B., Sanguansermsri, T., Kloss-Brandstatter, A. (2014) Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar BMC Evolutionary Biology . 14 (): 184-192 . |
| 14 | 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 . |
| 15 | 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 . |
| 16 | 33450006 | 2021 | Lutz-Bonengel, S., Niederstatter, H., Naue, J., Koziel, R., Yang, F., Sanger, T., Huber, G., Berger, C., Pflugradt, R., Strobl, C., Xavier, C., Volleth, M., Weiss, S. C., Irwin, J. A., Romsos, E. L., Vallone, P. M., Ratzinger, G., Schmuth, M., Jansen-Durr, P., Liehr, T., Lichter, P., Parsons, T. J., Pollak, S., Parson, W. (2021) Evidence for multi-copy Mega-NUMTs in the human genome Nucleic Acids Research . 49 (3): 1517-1531 . |