| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 19188198 | 2009 | Ware, S. M., El-Hassan, N., Kahler, S. G., Zhang, Q., Ma, Y. W., Miller, E., Wong, B., Spicer, R. L., Craigen, W. J., Kozel, B. A., Grange, D. K., Wong, L. J. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes Journal of Medical Genetics . 46 (5): 308-314 . |
| 2 | 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 . |
| 3 | 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 . |
| 4 | 26803244 | 2016 | Imai, A., Fujita, S., Kishita, Y., Kohda, M., Tokuzawa, Y., Hirata, T., Mizuno, Y., Harashima, H., Nakaya, A., Sakata, Y., Takeda, A., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein International Journal of Cardiology . 207 (): 203-205 . |
| 5 | 27409572 | 2016 | Imai, A., Kishita, Y., Nakayama, Y., Fujita, S., Futatani, T., Kohda, M., Yatsuka, Y., Nakaya, A., Sakata, Y., Murayama, K., Ohtake, A., Okazaki, Y. (2016) Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy International Journal of Cardiology . 221 (): 446-449 . |
| 6 | 30642647 | 2019 | Imai-Okazaki, A., Kishita, Y., Kohda, M., Mizuno, Y., Fushimi, T., Matsunaga, A., Yatsuka, Y., Hirata, T., Harashima, H., Takeda, A., Nakaya, A., Sakata, Y., Kogaki, S., Ohtake, A., Murayama, K., Okazaki, Y. (2019) Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background International Journal of Cardiology . 279 (): 115-121 . |
| 7 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
| 8 | 33180048 | 2021 | Zigman, T., Sikic, K., Petkovic Ramadza, D., Mayr, J., Wortmann, S., Prokisch, H., Ninkovic, D., Dilber, D., Saric, D., Rubic, F., Galic, S., Slavicek, J., Belina, D., Fumic, K., Baric, I. (2021) ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis Journal of Pediatric Endrocrinology and Metabolism . 34 (3): 389-393 . |
| 9 | 34298071 | 2021 | Imai-Okazaki, A., Matsunaga, A., Yatsuka, Y., Nitta, K. R., Kishita, Y., Sugiura, A., Sugiyama, Y., Fushimi, T., Shimura, M., Ichimoto, K., Tajika, M., Tominaga, M., Ebihara, T., Matsuhashi, T., Tsuruoka, T., Kohda, M., Hirata, T., Harashima, H., Nojiri, S., Takeda, A., Nakaya, A., Kogaki, S., Sakata, Y., Ohtake, A., Murayama, K., Okazaki, Y. (2021) Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients International Journal of Cardiology . S0167-5273 (21): 01080-01089 . |