Index | PMID | Date | Reference |
---|---|---|---|
1 | NA | 1992 | Wallace, D.C., Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M. (1992) Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease American Journal of Human Genetics . 51 (-): A30 . |
2 | 8104867 | 1993 | Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M.R., Mirra, S.S., Beal, M.F., Yang, C., Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., Reckord, C.L., Wallace, D.C. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics . 17 (1): 171-184 . |
3 | NA | 1994 | Cortopassi, G.A., Hutchin, T.P. (1994) Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease American Journal of Human Genetics . 55 (Suppl): A149 (abstract 857) . |
4 | 8004796 | 1994 | Leroy, D., Norby, S. (1994) A new human mtDNA polymorphism: tRNAGln/4336)(T-C) Clinical Genetics . 45 (2): 109-110 . |
5 | 7624338 | 1995 | Hutchin, T., Cortopassi, G. (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease Proceedings of the National Academy of Sciences of the United States of America . 92 (15): 6892-6895 . |
6 | 8848229 | 1995 | Wragg, M. A., Talbot, C. J., Morris, J. C., Lendon, C. L., Goate, A. M. (1995) No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant Neuroscience Letters . 201 (2): 107-110 . |
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 | 8741876 | 1996 | Brown, M.D., Shoffner, J.M., Kim, Y.L., Jun, A.S., Graham, B.H., Cabell, M.F., Gurley, D.S., Wallace, D.C. (1996) Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients American Journal of Human Genetics . 61 (3): 283-289 . |
9 | 9004131 | 1996 | Tysoe, C., Robinson, D., Brayne, C., Dening, T., Paykel, E. S., Huppert, F. A., Rubinsztein, D. C. (1996) The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years Journal of Medical Genetics . 33 (12): 1002-1006 . |
10 | 10424809 | 1999 | Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 . |
11 | 10680807 | 1999 | Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 . |
12 | 10953187 | 2000 | Tan, E. K., Khajavi, M., Thornby, J. I., Nagamitsu, S., Jankovic, J., Ashizawa, T. (2000) Variability and validity of polymorphism association studies in Parkinson's disease Neurology . 55 (4): 533-538 . |
13 | 11335700 | 2001 | Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 . |
14 | 11424923 | 2001 | Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln Journal of Medical Genetics . 38 (6): 400-405 . |
15 | 15247418 | 2004 | Coskun, P. E., Beal, M. F., Wallace, D. C. (2004) Somatic mitochondrial DNA control region mutations are prevalent in Alzheimer Disease brains Proceedings of the National Academy of Sciences of the United States of America . 101 (29): 10726-10731 . |
16 | 15292920 | 2005 | Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 . |
17 | 15786469 | 2005 | Pyle, A., Foltynie, T., Tiangyou, W., Lambert, C., Keers, S. M., Allcock, L. M., Davison, J., Lewis, S. J., Perry, R. H., Barker, R., Burn, D. J., Chinnery, P. F. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD Annals of Neurology . 57 (4): 564-567 . |
18 | 15975594 | 2005 | Huerta, C., Castro, M. G., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Martinez, C., Lahoz, C. H., Alvarez, V. (2005) Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population Journal of the Neurological Sciences . 236 (40545): 49-54 . |
19 | 16154228 | 2005 | Howell, N., Elson, J. L., Chinnery, P. F., Turnbull, D. M. (2005) mtDNA mutations and common neurodegenerative disorders Trends in Genetics . 21 (11): 583-586 . |
20 | 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 . |
21 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
22 | 17174475 | 2007 | Huerta, C., Sanchez-Ferrero, E., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Alvarez, V. (2007) No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes Neuroscience Letters . 413 (3): 202-205 . |
23 | 19076426 | 2008 | Khusnutdinova, E., Gilyazova, I., Ruiz-Pesini, E., Derbeneva, O., Khusainova, R., Khidiyatova, I., Magzhanov, R., Wallace, D. C. (2008) A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease Annals of the New York Academy of Sciences . 1147 (-): 1-20 . |
24 | 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 . |
25 | 29340697 | 2018 | Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 . |