| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1463007 | 1992 | Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 . |
| 2 | 7635294 | 1995 | Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 . |
| 3 | 10894993 | 2000 | Finsterer, J., Bittner, R., Bodingbauer, M., Eichberger, H., Stollberger, C., Blazek, G. (2000) Complex mitochondriopathy associated with 4 mtDNA transitions European Neurology . 44 (1): 37-41 . |
| 4 | 11349229 | 2001 | Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 . |
| 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 | 15286228 | 2004 | Uusimaa, J., Finnila, S., Remes, A. M., Rantala, H., Vainionpaa, L., Hassinen, I. E., Majamaa, K. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes Pediatrics . 114 (2): 443-450 . |
| 7 | 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 . |
| 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 | 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 . |
| 10 | 19527690 | 2009 | Zhang, A. M., Zou, Y., Guo, X., Jia, X., Zhang, Q., Yao, Y. G. (2009) Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese Biochemical and Biophysical Research Communications . 386 (2): 392-395 . |
| 11 | 20304802 | 2010 | van Oven, M. (2010) Revision of the mtDNA tree and corresponding haplogroup nomenclature Proceedings of the National Academy of Sciences of the United States of America . 107 (11): E38-E39; author reply E40-E41 . |
| 12 | 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 |
| 13 | 23304069 | 2012 | Bi, R., Zhang, A. M., Jia, X., Zhang, Q., Yao, Y. G. (2012) Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy Molecular Vision . 18 (): 3087-3094 . |
| 14 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 15 | 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 . |