MITOMAP References for Mutation G-A at 11832

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Index PMID Date Reference
1 10360780 1999 Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E., DiMauro, S. (1999) Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene Annals of Neurology . 45 (6): 820-823 .
2 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
3 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
4 11506394 2001 Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., DiMauro, S., Arnold, D. L., Haller, R. G. (2001) Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects Annals of Neurology . 50 (2): 133-141 .
5 11782982 2002 Taivassalo, T., Abbott, A., Wyrick, P., Haller, R. G. (2002) Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy Annals of Neurology . 51 (1): 38-44 .
6 20028790 2010 Porcelli, A. M., Ghelli, A., Ceccarelli, C., Lang, M., Cenacchi, G., Capristo, M., Pennisi, L. F., Morra, I., Ciccarelli, E., Melcarne, A., Bartoletti-Stella, A., Salfi, N., Tallini, G., Martinuzzi, A., Carelli, V., Attimonelli, M., Rugolo, M., Romeo, G., Gasparre, G. (2010) The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization Human Molecular Genetics . 19 (6): 1019-1032 .