Index | PMID | Date | Reference |
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1 | 2137962 | 1990 | Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy American Journal of Human Genetics . 46 (3): 428-433 . |
2 | 1436530 | 1992 | Shoffner, J.M., Fernhoff, M.D., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y., Newman, N.J., Ortiz, R.G., Polak, M., Ballinger, S.W., Lott, M.T., Wallace, D.C. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation Neurology . 42 (11): 2168-2174 . |
3 | 1442494 | 1992 | Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 . |
4 | 1539598 | 1992 | Harding, A.E., Holt, I.J., Sweeney, M.G., Brockington, M., Davis, M.B. (1992) Prenatal diagnosis of mitochondrial DNA8993 T-G disease American Journal of Human Genetics . 50 (3): 629-633 . |
5 | 1550128 | 1992 | Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T.R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., Robinson, B.H. (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high American Journal of Human Genetics . 50 (4): 852-858 . |
6 | 8095070 | 1993 | Ciafaloni, E., Santorelli, F.M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G., DiMauro, S. (1993) Maternally inherited Leigh syndrome Journal of Pediatrics . 122 (3): 419-422 . |
7 | 8240109 | 1993 | Ortiz, R.G., Newman, N.J., Shoffner, J.M., Kaufman, A.E., Koontz, D.A., Wallace, D.C. (1993) Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation Archives of Ophthalmology . 111 (11): 1525-1530 . |
8 | 8250532 | 1993 | Santorelli, F.M., Shanske, S., Macaya, A., DeVivo, D.C., DiMauro, S. (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Annals of Neurology . 34 (6): 827-834 . |
9 | 8435424 | 1993 | Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C., Caramazza, R. (1993) Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family British Journal of Ophthalmology . 77 (2): 84-88 . |
10 | 8476414 | 1993 | Tatuch, Y., Robinson, B.H. (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria Biochemical and Biophysical Research Communications . 192 (-): 124-128 . |
11 | 8505474 | 1993 | Yoshinaga, H., Ogino, T., Ohtahara, S., Sakuta, R., Nonaka, I., Horai, S. (1993) A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome Journal of Child Neurology . 8 (-): 129-133 . |
12 | 7529982 | 1994 | Fryer, A., Appleton, R., Sweeney, M.G., Rosenbloom, L., Harding, A.E. (1994) Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. Archives of Disease in Childhood . 71 (5): 419-422 . |
13 | 7798979 | 1994 | Lodi, R., Montagna, P., Iotti, S., Zaniol, P., Barboni, P., Puddu, P., Barbiroli, B. (1994) Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome Journal of Neurology, Neurosurgery and Psychiatry . 57 (12): 1492-1496 . |
14 | 8042671 | 1994 | Pastores, G.M., Santorelli, F.M., Shanske, S., Gelb, B.D., Fyfe, B., Wolfe, D., Willner, J.P. (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) American Journal of Medical Genetics . 50 (3): 265-271 . |
15 | 8078883 | 1994 | Trounce, I., Neill, S., Wallace, D.C. (1994) Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio Proceedings of the National Academy of Sciences of the United States of America . 91 (18): 8334-8338 . |
16 | 7603783 | 1995 | Makela-Bengs, P., Suomalainen, A., Majander, A., Rapola, J., Kalimo, H., Nuutila, A., Pihko, H. (1995) Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome Pediatric Research . 37 (5): 634-639 . |
17 | 7605802 | 1995 | Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., Van den Bogert, C., Zeman, J. (1995) Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA Biochimica et Biophysica Acta . 1271 (40577): 349-357 . |
18 | 8687192 | 1996 | DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 . |
19 | 8751860 | 1996 | Pallotti, F., Chen, X., Bonilla, E., Schon, E. A. (1996) Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging American Journal of Human Genetics . 59 (3): 591-602 . |
20 | 8830176 | 1996 | Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., Davidson, E., DeVivo, D.C., DiMauro, S. (1996) Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome Journal of Inherited Metabolic Disease . 19 (1): 43-50 . |
21 | 8858707 | 1996 | Mak, S. C., Chi, C. S., Liu, C. Y., Pang, C. Y., Wei, Y. H. (1996) Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers Pediatric Neurology . 15 (1): 72-75 . |
22 | 9222207 | 1997 | Santorelli, F.M., Tanji, K., Shanske, S., DiMauro, S. (1997) Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation Neurology . 49 (1): 270-273 . |
23 | 9568930 | 1998 | Fujii, T., Hattori, H., Higuchi, Y., Tsuji, M., Mitsuyoshi, I. (1998) Phenotypic differences between T-C and T-G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome Pediatric Neurology . 18 (3): 275-277 . |
24 | 9686360 | 1998 | Rabier, D., Diry, C., Rotig, A., Rustin, P., Heron, B., Bardet, J., Parvy, P., Ponsot, G., Marsac, C., Saudubray, J.M., Munnich, A., Kamoun, P. (1998) Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? Journal of Inherited Metabolic Disease . 21 (3): 216-219 . |
25 | 9870208 | 1998 | Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., DeVivo, D.C., DiMauro, S. (1998) Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations Journal of Inherited Metabolic Disease . 21 (8): 829-836 . |
26 | 9858860 | 1999 | Alves-Silva, J., Guimaraes, P. E., Rocha, J., Pena, S. D., Prado, V. F. (1999) Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region Human Heredity . 49 (1): 56-58 . |
27 | 10092618 | 1999 | Manfredi, G., Gupta, N., Vazquez-Memije, M.E., Sadlock, J.E., Spinazzola, A., De Vivo, D.C., Schon, E.A. (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene Journal of Biological Chemistry . 274 (14): 9386-9391 . |
28 | 10417290 | 1999 | White, S. L., Collins, V. R., Wolfe, R., Cleary, M. A., Shanske, S., DiMauro, S., Dahl, H. H., Thorburn, D. R. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 American Journal of Human Genetics . 65 (2): 474-482 . |
29 | 10426322 | 1999 | Brini, M., Pinton, P., King, M.P., Davidson, M., Schon, E.A., Rizzuto, R. (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency Nature Medicine . 5 (8): 951-954 . |
30 | 10590437 | 1999 | White, S. L., Shanske, S., Biros, I., Warwick, L., Dahl, H. M., Thorburn, D. R., Di Mauro, S. (1999) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA Prenatal Diagnosis . 19 (12): 1165-1168 . |
31 | 10611123 | 2000 | Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 . |
32 | 10611124 | 2000 | Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 . |
33 | 10669202 | 2000 | Vilarinho, L., Leao, E., Barbot, C., Santos, M., Rocha, H., Santorelli, F. M. (2000) Clinical and molecular studies in three Portuguese mtDNA T8993G families Pediatric Neurology . 22 (1): 29-32 . |
34 | 10862082 | 2000 | Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 . |
35 | 10889120 | 2000 | Hayashi, N., Geraghty, M. T., Green, W. R. (2000) Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome Ophthalmology . 107 (7): 1397-1402 . |
36 | 11074292 | 2000 | Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 . |
37 | 11076946 | 2001 | Nijtmans, L. G., Henderson, N. S., Attardi, G., Holt, I. J. (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene Journal of Biological Chemistry . 276 (9): 6755-6762 . |
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42 | 14998933 | 2004 | Mattiazzi, M., Vijayvergiya, C., Gajewski, C. D., DeVivo, D. C., Lenaz, G., Wiedmann, M., Manfredi, G. (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants Human Molecular Genetics . 13 (8): 869-879 . |
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44 | 15647368 | 2005 | Petros, J. A., Baumann, A. K., Ruiz-Pesini, E., Amin, M. B., Sun, C. Q., Hall, J., Lim, S., Issa, M. M., Flanders, W. D., Hosseini, S. H., Marshall, F. F., Wallace, D. C. (2005) mtDNA mutations increase tumorigenicity in prostate cancer Proceedings of the National Academy of Sciences of the United States of America . 102 (3): 719-724 . |
45 | 15753359 | 2005 | Shidara, Y., Yamagata, K., Kanamori, T., Nakano, K., Kwong, J. Q., Manfredi, G., Oda, H., Ohta, S. (2005) Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis Cancer Research . 65 (5): 1655-1663 . |
46 | 16050991 | 2005 | Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., Kofler, B. (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion . 5 (4): 282-296 . |
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48 | 16402916 | 2006 | Sgarbi, G., Baracca, A., Lenaz, G., Valentino, L. M., Carelli, V., Solaini, G. (2006) Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA Biochemical Journal . 395 (3): 493-500 . |
49 | 16483543 | 2006 | Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 . |
50 | 16525806 | 2006 | Rojo, A., Campos, Y., Sanchez, J. M., Bonaventura, I., Aguilar, M., Garcia, A., Gonzalez, L., Rey, M. J., Arenas, J., Olive, M., Ferrer, I. (2006) NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study Acta Neuropathologica (Berlin) . 111 (6): 610-616 . |
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54 | 17257906 | 2007 | Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Yamaguchi, S., Nozawa, Y., Tanaka, M. (2007) Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females Mitochondrion . 7 (40545): 72-79 . |
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57 | 17518546 | 2007 | Bonnet, C., Kaltimbacher, V., Ellouze, S., Augustin, S., Benit, P., Forster, V., Rustin, P., Sahel, J. A., Corral-Debrinski, M. (2007) Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits Rejuvenation Research . 10 (2): 127-144 . |
58 | 17545557 | 2007 | Steffann, J., Gigarel, N., Corcos, J., Bonniere, M., Encha-Razavi, F., Sinico, M., Prevot, S., Dumez, Y., Yamgnane, A., Frydman, R., Munnich, A., Bonnefont, J. P. (2007) Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome Journal of Medical Genetics . 44 (10): 664-669 . |
59 | 17568559 | 2007 | Baracca, A., Sgarbi, G., Mattiazzi, M., Casalena, G., Pagnotta, E., Valentino, M. L., Moggio, M., Lenaz, G., Carelli, V., Solaini, G. (2007) Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 Biochimica et Biophysica Acta . 1767 (7): 913-919 . |
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