MITOMAP References for Mutation T-C at 13094

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Index PMID Date Reference
1 33763872 2021 Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 .
2 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
3 22577219 2012 Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 .
4 22249460 2012 Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 .
5 21364701 2011 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
6 29479304 2018 Emperador, S., Vidal, M., Hernandez-Ainsa, C., Ruiz-Ruiz, C., Woods, D., Morales-Becerra, A., Arruga, J., Artuch, R., Lopez-Gallardo, E., Bayona-Bafaluy, M. P., Montoya, J., Ruiz-Pesini, E. (2018) The decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient Frontiers in Neuroscience . 12 (): 61 .
7 29506874 2018 Ng, Y. S., Lax, N. Z., Maddison, P., Alston, C. L., Blakely, E. L., Hepplewhite, P. D., Riordan, G., Meldau, S., Chinnery, P. F., Pierre, G., Chronopoulou, E., Du, A., Hughes, I., Morris, A. A., Kamakari, S., Chrousos, G., Rodenburg, R. J., Saris, C. G. J., Feeney, C., Hardy, S. A., Sakakibara, T., Sudo, A., Okazaki, Y., Murayama, K., Mundy, H., Hanna, M. G., Ohtake, A., Schaefer, A. M., Champion, M. P., Turnbull, D. M., Taylor, R. W., Pitceathly, R. D. S., McFarland, R., Gorman, G. S. (2018) MT-ND5 mutation exhibits highly variable neurological manifestations at low mutant load EBioMedicine . 30 (): 86-93 .
8 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
9 31226990 2019 Emperador, S., Lopez-Gallardo, E., Hernandez-Ainsa, C., Habbane, M., Montoya, J., Bayona-Bafaluy, M. P., Ruiz-Pesini, E. (2019) Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation Orphanet Journal of Rare Diseases . 14 (1): 150 .
10 28429146 2017 Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 .
11 34135385 2021 Nuber, F., Schimpf, J., di Rago, J. P., Tribouillard-Tanvier, D., Procaccio, V., Martin-Negrier, M. L., Trimouille, A., Biner, O., von Ballmoos, C., Friedrich, T. (2021) Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I Scientific Reports . 11 (1): 12641 .