| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1764087 | 1991 | Johns, D. R., Neufeld, M. J. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 181 (3): 1358-1364 . |
| 2 | 2043137 | 1991 | Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Ohno, K., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., Hashiba, K. (1991) Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy Biochemical and Biophysical Research Communications . 177 (1): 518-525 . |
| 3 | 7806218 | 1994 | Tanaka, M., Ozawa, T. (1994) Strand asymmetry in human mitochondrial DNA mutations Genomics . 22 (2): 327-335 . |
| 4 | 7723627 | 1995 | Ikebe, S., Tanaka, M., Ozawa, T. (1995) Point mutations of mitochondrial genome in Parkinson's disease Molecular Brain Research . 28 (2): 281-295 . |
| 5 | 11464242 | 2001 | Legros, F., Chatzoglou, E., Frachon, P., Ogier De Baulny, H., Laforet, P., Jardel, C., Godinot, C., Lombes, A. (2001) Functional characterization of novel mutations in the human cytochrome b gene European Journal of Human Genetics . 9 (7): 510-581 . |
| 6 | 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 . |
| 7 | 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 . |
| 8 | 16901986 | 2006 | Fraumene, C., Belle, E. M., Castri, L., Sanna, S., Mancosu, G., Cosso, M., Marras, F., Barbujani, G., Pirastu, M., Angius, A. (2006) High resolution analysis and phylogenetic network construction using complete mtDNA sequences in Sardinian genetic isolates Molecular Biology and Evolution . 23 (11): 2101-2111 . |
| 9 | 17085680 | 2006 | Rodriguez-Ballesteros, M., Olarte, M., Aguirre, L. A., Galan, F., Galan, R., Vallejo, L. A., Navas, C., Villamar, M., Moreno-Pelayo, M. A., Moreno, F., del Castillo, I. (2006) Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene Journal of Medical Genetics . 43 (11): e54 . |
| 10 | 20454697 | 2010 | Kumar, M., Tanwar, M., Saxena, R., Sharma, P., Dada, R. (2010) Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy Molecular Vision . 16 (-): 782-792 . |
| 11 | 21041797 | 2011 | Batini, C., Lopes, J., Behar, D. M., Calafell, F., Jorde, L. B., van der Veen, L., Quintana-Murci, L., Spedini, G., Destro-Bisol, G., Comas, D. (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes Molecular Biology and Evolution . 28 (2): 1099-1110 . |
| 12 | 22487888 | 2012 | Sukernik, R. I., Volodko, N. V., Mazunin, I. O., Eltsov, N. P., Dryomov, S. V., Starikovskaya, E. B. (2012) Mitochondrial genome diversity in the Tubalar, Even, and Ulchi: contribution to prehistory of native Siberians and their affinities to Native Americans American Journal of Physical Anthropology . 148 (1): 123-138 . |
| 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 | 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 . |