MITOMAP References for Mutation G-A at 5460

Download PMID list

Index PMID Date Reference
1 1370613 1992 Lin, F., Lin, R., Wisniewski, H.M., Hwang, Y., Grundke-Iqbal, I., Healy-Louie, G., Iqbal, K. (1992) Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains Biochemical and Biophysical Research Communications . 182 (1): 238-246 .
2 1463007 1992 Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 .
3 1352971 1992 Petruzzella, V., Chen, X., Schon, E.A. (1992) Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease? Biochemical and Biophysical Research Communications . 186 (-): 491-497 .
4 8093052 1994 Kosel, S., Egensperger, R., Mehraein, P., Graeber, M.B. (1994) No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease Biochemical and Biophysical Research Communications . 203 (2): 745-749 .
5 8937782 1996 Schnopp, N. M., Kosel, S., Egensperger, R., Graeber, M. B. (1996) Regional heterogeneity of mtDNA heteroplasmy in parkinsonian brain Clinical Neuropathology . 15 (6): 348-352 .
6 16773565 2006 Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 .
7 8723226 1996 Kosel, S., Lucking, C. B., Egensperger, R., Mehraein, P., Graeber, M. B. (1996) Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism Journal of Neuroscience Research . 44 (2): 174-183 .
8 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 .
9 19703591 2010 Tanaka, N., Goto, Y. I., Akanuma, J., Kato, M., Kinoshita, T., Yamashita, F., Tanaka, M., Asada, T. (2010) Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease Mitochondrion . 10 (1): 32-37 .
10 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 .