| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 9443868 | 1998 | Howell, N., Bogolin, C., Jamieson, R., Marenda, D.R., Mackey, D.A. (1998) mtDNA mutations that cause optic neuropathy: how do we know? American Journal of Human Genetics . 62 (1): 196-202 . |
| 2 | 10680807 | 1999 | Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 . |
| 3 | 11349229 | 2001 | Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 . |
| 4 | 11931086 | 2002 | Luberichs, J., Leo-Kottler, B., Besch, D., Fauser, S. (2002) A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy Graefes Archive for Clincial and Experimental Ophthalmology . 240 (2): 96-100 . |
| 5 | 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 . |
| 6 | 12150954 | 2002 | Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 . |
| 7 | 12402350 | 2002 | Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N., Comi, G.P. (2002) A collection of 33 novel human mtDNA homoplasmic variants Human Mutation . 20 (5): 409 . |
| 8 | 15465027 | 2004 | Da Pozzo, P., Cardaioli, E., Radi, E., Federico, A. (2004) Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 324 (1): 360-364 . |
| 9 | 16705548 | 2006 | Janssen, G. M., Neu, A., t Hart, L. M., van de Sande, C. M., Antonie Maassen, J. (2006) Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness Experimental and Clinical Endocrinology and Diabetes . 114 (4): 168-174 . |
| 10 | 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 . |
| 11 | 19050702 | 2008 | Webb, E., Broderick, P., Chandler, I., Lubbe, S., Penegar, S., Tomlinson, I. P., Houlston, R. S. (2008) Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk British Journal of Cancer . 99 (12): 2088-2093 . |
| 12 | 20939899 | 2010 | Palanichamy, M. G., Zhang, C. L., Mitra, B., Malyarchuk, B., Derenko, M., Chaudhuri, T. K., Zhang, Y. P. (2010) Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers BMC Evolutionary Biology . 10 (): 304 . |
| 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 | 28267784 | 2017 | Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F., Maxwell, P. H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease PLoS Genetics . 13 (3): e1006620 . |
| 15 | 29208909 | 2017 | Jiang, W., Li, R., Zhang, Y., Wang, P., Wu, T., Lin, J., Yu, J., Gu, M. (2017) Mitochondrial DNA mutations associated with type 2 diabetes mellitus in Chinese Uyghur population Scientific Reports . 7 (1): 16989 . |
| 16 | 31797714 | 2019 | Jahani, M. M., Azimi Meibody, A., Karimi, T., Banoei, M. M., Houshmand, M. (2019) An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . (): 1-6 . |
| 17 | 32094358 | 2020 | Marcus, J. H., Posth, C., Ringbauer, H., Lai, L., Skeates, R., Sidore, C., Beckett, J., Furtwangler, A., Olivieri, A., Chiang, C. W. K., Al-Asadi, H., Dey, K., Joseph, T. A., Liu, C. C., Der Sarkissian, C., Radzeviciute, R., Michel, M., Gradoli, M. G., Marongiu, P., Rubino, S., Mazzarello, V., Rovina, D., La Fragola, A., Serra, R. M., Bandiera, P., Bianucci, R., Pompianu, E., Murgia, C., Guirguis, M., Orquin, R. P., Tuross, N., van Dommelen, P., Haak, W., Reich, D., Schlessinger, D., Cucca, F., Krause, J., Novembre, J. (2020) Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia Nature Communications . 11 (1): 939 . |