MITOMAP References for Mutation G-A at 9026

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1 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 ( 798264 .
2 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 .
3 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 .
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 .