MITOMAP References for Variant T-C at 9035

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Index PMID Date Reference
1 19626676 2009 Sikorska, M., Sandhu, J. K., Simon, D. K., Pathiraja, V., Sodja, C., Li, Y., Ribecco-Lutkiewicz, M., Lanthier, P., Borowy-Borowski, H., Upton, A., Raha, S., Pulst, S. M., Tarnopolsky, M. A. (2009) Identification of ataxia-associated mtDNA mutations (m.4452T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids Muscle and Nerve . 40 (3): 381-394 .
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 .
6 32858252 2020 Rucheton, B., Jardel, C., Filaut, S., Amador, M. D. M., Maisonobe, T., Serre, I., Romero, N. B., Leonard-Louis, S., Haraux, F., Lombes, A. (2020) Homoplasmic deleterious MT-ATP6/8 mutations in adult patients Mitochondrion . 55 (): 64-77 .