MITOMAP References for Mutation G-A at 10197

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1 15372108 2004 Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T., Thorburn, D. R. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation . 114 (6): 837-845 .
2 17152068 2006 Sarzi, E., Brown, M., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. (2006) A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia American Journal of Medical Genetics . 143A (1): 33-41 .
3 17413873 2007 Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K., Hirano, M. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency Pediatric Research . 61 (5, Part 1): 622-624 .
4 18800376 2009 Bandelt, H. J., Salas, A., Taylor, R. W., Yao, Y. G. (2009) Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches Human Mutation . 30 (2): 191-196 .
5 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 .
6 19458970 2009 Wang, K., Takahashi, Y., Gao, Z. L., Wang, G. X., Chen, X. W., Goto, J., Lou, J. N., Tsuji, S. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia Neurogenetics . 10 (4): 337-345 .
7 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
8 20972245 2011 Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 .
9 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 .