| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 9461455 | 1998 | Rieder, M.J., Taylor, S.L., Tobe, V.O., Nickerson, D.A. (1998) Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome Nucleic Acids Research . 26 (4): 967-973 . |
| 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 | 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 | 16532388 | 2006 | Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., Zeviani, M., Leuzzi, V., Carducci, C., Valle, G., Simionati, B., Mendieta, L., Salomao, S., Belfort, R., Sadun, A. A., Torroni, A. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees American Journal of Human Genetics . 78 (4): 564-574 . |
| 5 | 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 . |
| 6 | 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 . |
| 7 | 17429907 | 2007 | Opdal, S. H., Vege, A., Arnestad, M., Musse, M. A., Rognum, T. O. (2007) Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome Acta Paediatr . 96 (2): 211-214 . |
| 8 | 20656066 | 2011 | Verny, C., Guegen, N., Desquiret, V., Chevrollier, A., Prundean, A., Dubas, F., Cassereau, J., Ferre, M., Amati-Bonneau, P., Bonneau, D., Reynier, P., Procaccio, V. (2011) Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation Mitochondrion . 11 (1): 70-75 . |
| 9 | 22561905 | 2012 | Gomez-Duran, A., Pacheu-Grau, D., Martinez-Romero, I., Lopez-Gallardo, E., Lopez-Perez, M. J., Montoya, J., Ruiz-Pesini, E. (2012) Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1822 (8): 1216-1222 SNVs are also taken from the supplemental information |
| 10 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 11 | 27422531 | 2017 | Tabebi, M., Charfi, N., Kallabi, F., Alila-Fersi, O., Ben Mahmoud, A., Tlili, A., Keskes-Ammar, L., Kamoun, H., Abid, M., Mnif, M., Fakhfakh, F. (2017) Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation Journal of Diabetes and its Complications . 31 (1): 253-259 . |
| 12 | 31798871 | 2019 | Alharbi, M. A., Al-Kafaji, G., Khalaf, N. B., Messaoudi, S. A., Taha, S., Daif, A., Bakhiet, M. (2019) Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis Biomedical Reports . 11 (6): 257-268 . |
| 13 | 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 . |
| 14 | 32943110 | 2020 | Valentino, R. R., Tamvaka, N., Heckman, M. G., Johnson, P. W., Soto-Beasley, A. I., Walton, R. L., Koga, S., Uitti, R. J., Wszolek, Z. K., Dickson, D. W., Ross, O. A. (2020) Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures Acta Neuropathologica Communications . 8 (1): 162 (marker variants and their primers in supplemental file) . |