MITOMAP References for Variant G-A at 10197

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Index PMID Date Reference
1 11130070 2000 Ingman, M., Kaessmann, H., Paabo, S., Gyllensten, U. (2000) Mitochondrial genome variation and the origin of modern humans Nature . 408 (6813): 708-713 .
2 12509511 2003 Mishmar, D., Ruiz-Pesini, E. E., Golik, P., Macaulay, V., Clark, A. G., Hosseini, S., Brandon, M., Easley, K., Chen, E., Brown, M. D., Sukernik, R. I., Olckers, A., Wallace, D. C. (2003) Natural selection shaped regional mtDNA variation in humans Proceedings of the National Academy of Sciences of the United States of America . 100 (1): 171-176 .
3 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 .
4 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 .
5 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 .
6 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 .
7 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 .
8 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 .
9 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 .
10 21978175 2011 Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 .
11 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 .
12 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 .
13 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 .
14 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
15 30095618 2018 Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 .
16 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
17 30899856 2019 Fantini, M., Asanad, S., Karanjia, R., Sadun, A. (2019) Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo Journal of Current Opththalmology . 31 (1): 102-105 .
18 30978515 2019 Finsterer, J. (2019) Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A Journal of the Neurological Sciences . 400 (): 182-183 .
19 30461153 2019 Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 .
20 NA 2019 Pereira, C., de Souza, C. F., Vedolin, L., Vairo, F., Lorea, C., Sobreira, C., Nogueira, C., Vilarinho, L. (2019) Leigh syndrome due to mtDNA pathogenic variants Journal of Inborn Errors of Metabolism and Screening . 7 (): e20180003; doi:10.1590/2326-4594-jiems-2018-0003 .
21 30978516 2019 Severino, M., Nesti, C., Rubegni, A., Tolomeo, D., Santorelli, F. M. (2019) The features of the m.10197G>A mtDNA mutation Journal of the Neurological Sciences . 400 (): 184-185 .
22 30199507 2019 Solyman, O., MacIntosh, P. (2019) Leber hereditary optic neuropathy in a mother and faughter associated with m.10197G>A mutation Journal of Neuro-Ophthalmology . 39 (1): 142 .
23 32045392 2020 Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 .
24 35715829 2022 Navaratnarajah, T., Bellmann, M., Seibt, A., Anand, R., Degistirici, O., Meisel, R., Mayatepek, E., Reichert, A., Baertling, F., Distelmaier, F. (2022) Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants Stem Cell Research and Therapy . 13 (1): 256 .