Index | PMID | Date | Reference |
---|---|---|---|
1 | 24448545 | 2014 | Li, S., Besenbacher, S., Li, Y., Kristiansen, K., Grarup, N., Albrechtsen, A., Sparso, T., Korneliussen, T., Hansen, T., Wang, J., Nielsen, R., Pedersen, O., Bolund, L., Schierup, M. H. (2014) Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population. [Additional SNP data in Supplemental Table 2] European Journal of Human Genetics . 22 (8): 1040-1045 . |
2 | 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 . |
3 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
4 | 34037856 | 2021 | Nolte, D., Kang, J. S., Hofmann, A., Schwaab, E., Kramer, H. H., Muller, U. (2021) Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia Journal of Neurology . 268 (12): 4866-4873 . |