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2 | 22577227 | 2012 | Pfeffer, G., Blakely, E. L., Alston, C. L., Hassani, A., Boggild, M., Horvath, R., Samuels, D. C., Taylor, R. W., Chinnery, P. F. (2012) Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations Journal of Neurology, Neurosurgery and Psychiatry 83 (9): 883-886 |
3 | 29467576 | 2018 | Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245 |
4 | 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 . |
5 | 31187502 | 2019 | Ng, Y. S., Martikainen, M. H., Gorman, G. S., Blain, A., Bugiardini, E., Bunting, A., Schaefer, A. M., Alston, C. L., Blakely, E. L., Sharma, S., Hughes, I., Lim, A., de Goede, C., McEntagart, M., Spinty, S., Horrocks, I., Roberts, M., Woodward, C. E., Chinnery, P. F., Horvath, R., Nesbitt, V., Fratter, C., Poulton, J., Hanna, M. G., Pitceathly, R. D. S., Taylor, R. W., Turnbull, D. M., McFarland, R. (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Annals of Neurology . 86 (2): 310-315 . |