Index | PMID | Date | Reference |
---|---|---|---|
1 | 25037980 | 2014 | Burrage, L. C., Tang, S., Wang, J., Donti, T. R., Walkiewicz, M., Luchak, J. M., Chen, L. C., Schmitt, E. S., Niu, Z., Erana, R., Hunter, J. V., Graham, B. H., Wong, L. J., Scaglia, F. (2014) Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene Molecular Genetics and Metabolism . 113 (3): 207-212 . |
2 | 27812026 | 2016 | Wen, S., Niedzwiecka, K., Zhao, W., Xu, S., Liang, S., Zhu, X., Xie, H., Tribouillard-Tanvier, D., Giraud, M. F., Zeng, C., Dautant, A., Kucharczyk, R., Liu, Z., di Rago, J. P., Chen, H. (2016) Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy Scientific Reports . 6 (): 36313 . |
3 | 27450679 | 2017 | Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 . |
4 | 29350304 | 2018 | Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T., Suomalainen, A. (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth Neurogenetics . 19 (1): 49-53 . |
5 | 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 . |
6 | 34732400 | 2021 | Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 . |