| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 15466014 | 2004 | Kirby, D. M., McFarland, R., Ohtake, A., Dunning, C., Ryan, M. T., Wilson, C., Ketteridge, D., Turnbull, D. M., Thorburn, D. R., Taylor, R. W. (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS Journal of Medical Genetics . 41 (10): 784-789 . |
| 2 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
| 3 | 16849371 | 2006 | Kervinen, M., Hinttala, R., Helander, H. M., Kurki, S., Uusimaa, J., Finel, M., Majamaa, K., Hassinen, I. E. (2006) The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I Human Molecular Genetics . 15 (17): 2543-2552 . |
| 4 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
| 5 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
| 6 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
| 7 | 26741492 | 2016 | Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., Tamaru, S., Borna, N. N., Banshoya, K., Aigaki, T., Sato-Miyata, Y., Ohnuma, K., Suzuki, T., Nagao, A., Maehata, H., Matsuda, F., Higasa, K., Nagasaki, M., Yasuda, J., Yamamoto, M., Fushimi, T., Shimura, M., Kaiho-Ichimoto, K., Harashima, H., Yamazaki, T., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genetics . 12 (1): e1005679 . |
| 8 | 28429146 | 2017 | Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 . |
| 9 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 10 | 31665838 | 2019 | Han, X. D., Fang, F., Li, H., Liu, Z. M., Shi, Y. Q., Wang, J. L., Ren, X. T., Ding, C. H., Chen, C. H., Li, J. W., Zhang, W. H., Deng, J. (2019) [Clinical and genetic characteristics of 62 children with mitochondrial epilepsy] Chinese Journal of Pediatrics [Zhonghua Er Ke Za Zhi] . 57 (11): 844-851 . |
| 11 | 31996177 | 2020 | Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 . |
| 12 | 38465286 | 2024 | Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 . |