Index | PMID | Date | Reference |
---|---|---|---|
1 | 226894 | 1979 | Barrell, B.G., Bankier, A.T., Drouin, J. (1979) A different genetic code in human mitochondria Nature . 282 (5735): 189-194 . |
2 | 2830540 | 1988 | Holt, I.J., Harding, A.E., Morgan-Hughes, J.A. (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature . 331 (6158): 717-719 . |
3 | 2895391 | 1988 | Lestienne, P., Ponsot, G. (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion Lancet . 1 (8590): 885 . |
4 | 2900946 | 1988 | Rotig, A., Colonna, M., Blanche, S., Fischer, A., LeDeist, F., Frezal, J., Saudubray, J.M., Munnich, A. (1988) Deletion of blood mitochondrial DNA in pancytopenia Lancet . 2 (8610): 567-568 . |
5 | 3412580 | 1988 | Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Nakase, H., Bonilla, E., Schon, E. A., Rowland, L. P. (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome Neurology . 38 (9): 1339-1346 . |
6 | 2541333 | 1989 | Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F., Nakase, H., Bonilla, E., Werneck, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A. J., Brownell, K. W., Schmidt, B., Schotland, D. L., Zupanc, M., DeVivo, D. C., Schon, E. A., Rowland, L. P. (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome New England Journal of Medicine . 320 (20): 1293-1299 . |
7 | 2556715 | 1989 | Mita, S., Schmidt, B., Schon, E.A., DiMauro, S., Bonilla, E. (1989) Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome Proceedings of the National Academy of Sciences of the United States of America . 86 (23): 9509-9513 . |
8 | 2564980 | 1989 | Rotig, A., Colonna, M., Bonnefont, J.P., Blanche, S., Fischer, A., Saudubray, J.M., Munnich, A. (1989) Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome Lancet . 1 (8643): 902-903 . |
9 | 2604380 | 1989 | Holt, I.J., Harding, A.E., Cooper, J.M., Schapira, A.H., Toscano, A., Clark, J.B., Morgan-Hughes, J.A. (1989) Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA Annals of Neurology . 26 (6): 699-708 . |
10 | 2711184 | 1989 | Schon, E.A., Rizzuto, R., Moraes, C.T., Nakase, H., Zeviani, M., DiMauro, S. (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA Science . 244 (4902): 346-349 . |
11 | 2748329 | 1989 | Holt, I.J., Harding, A.E., Morgan-Hughes, J.A. (1989) Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms Nucleic Acids Research . 17 (12): 4465-4469 . |
12 | 2803291 | 1989 | Tanaka, M., Sato, W., Ohno, K., Yamamoto, T., Ozawa, T. (1989) Direct sequencing of deleted mitochondrial DNA in myopathic patients Biochemical and Biophysical Research Communications . 164 (-): 156-163 . |
13 | 2813377 | 1989 | Johns, D. R., Rutledge, S. L., Stine, O. C., Hurko, O. (1989) Directly repeated sequences associated with pathogenic mitochondrial DNA deletions Proceedings of the National Academy of Sciences of the United States of America . 86 (20): 8059-8062 . |
14 | 1689952 | 1990 | Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S., Schon, E. A. (1990) Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis American Journal of Human Genetics . 46 (3): 418-427 . |
15 | 1965208 | 1990 | Goto, Y., Koga, Y., Horai, S., Nonaka, I. (1990) Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies Journal of the Neurological Sciences . 100 (40545): 63-69 . |
16 | 1965280 | 1990 | Linnane, A. W., Baumer, A., Maxwell, R. J., Preston, H., Zhang, C., Marzuki, S. (1990) Mitochondrial gene mutation: the aging process and degenerative diseases Biochemistry International . 22 (6): 1067-1076 . |
17 | 1973036 | 1990 | Obermaier-Kusser, B., Muller-Hocker, J., Nelson, I., Lestienne, P., Enter, C., Riedele, T., Gerbitz, K. D. (1990) Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR Biochemical and Biophysical Research Communications . 169 (3): 1007-1015 . |
18 | 2241948 | 1990 | Ozawa, T., Tanaka, M., Ikebe, S., Ohno, K., Kondo, T., Mizuno, Y. (1990) Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis Biochemical and Biophysical Research Communications . 172 (2): 483-489 . |
19 | 2243133 | 1990 | Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.M. (1990) Pearson's marrow-pancreas syndrome. A multi-system mitochondrial disorder in infancy Journal of Clinical Investigation . 86 (-): 1601-1608 . |
20 | 2263455 | 1990 | Cortopassi, G. A., Arnheim, N. (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans Nucleic Acids Research . 18 (23): 6927-6933 . |
21 | 2296377 | 1990 | Shanske, S., Moraes, C.T., Lombes, A., Miranda, A.F., Bonilla, E., Lewis, P., Whelan, M.A., Ellsworth, C.A., DiMauro, S. (1990) Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome Neurology . 40 (1): 24-28 . |
22 | 2381550 | 1990 | Johns, D. R. (1990) MtDNA deletions in Kearns-Sayre Neurology . 40 (8): 1322 . |
23 | 2390073 | 1990 | Ikebe, S., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y., Ozawa, T. (1990) Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence Biochemical and Biophysical Research Communications . 170 (3): 1044-1048 . |
24 | 2550906 | 1990 | Mita, S., Rizzuto, R., Moraes, C.T., Shanske, S., Arnaudo, E., Fabrizi, G.M., Koga, Y., DiMauro, S., Schon, E.A. (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA Nucleic Acids Research . 18 (3): 561-567 . |
25 | 1712754 | 1991 | Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., Munnich, A. (1991) Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome Genomics . 10 (2): 502-504 . |
26 | 1851820 | 1991 | Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., Paturneau-Jouas, M., Chaussain, M., Leroux, J.P., Marsac, C. (1991) Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies Journal of the Neurological Sciences . 101 (2): 168-177 . |
27 | 1985462 | 1991 | McShane, M.A., Hammans, M., Sweeney, I., Holt, I.J., Beattie, T.J., Brett, E.M., Harding, A.E. (1991) Pearson Syndrome and mitochondrial encephalomyopathy in patient with a deletion of mtDNA American Journal of Human Genetics . 48 (1): 39-42 . |
28 | 2011523 | 1991 | Degoul, F., Nelson, I., Amselem, S., Romero, N., Obermaier-Kusser, B., Ponsot, G., Marsac, C., Lestienne, P. (1991) Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies Nucleic Acids Research . 19 (3): 493-496 . |
29 | 2014792 | 1991 | Poulton, J., Deadman, M. E., Ramacharan, S., Gardiner, R. M. (1991) Germ-line deletions of mtDNA in mitochondrial myopathy American Journal of Human Genetics . 48 (4): 649-653 . |
30 | 2069552 | 1991 | Yen, T. C., Su, J. H., King, K. L., Wei, Y. H. (1991) Ageing-associated 5 kb deletion in human liver mitochondrial DNA Biochemical and Biophysical Research Communications . 178 (1): 124-131 . |
31 | 1284549 | 1992 | Moraes, C.T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E.A., Bonilla, E. (1992) Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions Nature Genetics . 1 (5): 359-367 . |
32 | 1303287 | 1992 | Soong, N.W., Hinton, D.R., Cortopassi, G., Arnheim, N. (1992) Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain Nature Genetics . 2 (4): 318-323 . |
33 | 1303288 | 1992 | Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., Beal, M.F., Wallace, D.C. (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age Nature Genetics . 2 (4): 324-329 . |
34 | 1305030 | 1992 | Simonsz, H.J., Barlocher, K., Rotig, A. (1992) Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Documenta Ophthalmologica . 82 (-): 73-79 . |
35 | 1315844 | 1992 | Hammans, S.R., Sweeney, M.G., Holt, I.J., Cooper, J.M., Toscano, A., Clark, J.B., Morgan-Hughes, J.A., Harding, A.E. (1992) Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy Journal of the Neurological Sciences . 107 (1): 87-92 . |
36 | 1383759 | 1992 | Corral-Debrinski, M., Shoffner, J.M., Lott, M.T., Wallace, D.C. (1992) Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease Mutation Research . 275 (40608): 169-180 . |
37 | 1463763 | 1992 | Simonetti, S., Chen, X., DiMauro, S., Schon, E.A. (1992) Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR Biochimica et Biophysica Acta . 1180 (2): 113-122 . |
38 | 1469460 | 1992 | Cooper, J. M., Mann, V. M., Schapira, A. H. V. (1992) Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing Journal of the Neurological Sciences . 113 (1): 91-98 . |
39 | 1519437 | 1992 | Gurgey, A., Rotig, A., Gumruk, F., Cemeroglu, P., Sarialioglu, F., Altay, C. (1992) Pearson's marrow-pancreas syndrome in 2 Turkish children Acta Haematologica . 87 (4): 206-209 . |
40 | 1544498 | 1992 | Mann, V.M., Cooper, J.M., Schapira, A.H.V. (1992) Quantitation of a mitochondrial DNA deletion in Parkinson's disease FEBS Letters . 299 (3): 218-222 . |
41 | 1606473 | 1992 | Hammans, S.R., Sweeney, M.G., Wicks, D.A., Morgan-Hughes, J.A., Harding, A.E. (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies Brain . 115 (Pt 2): 343-365 . |
42 | 7679851 | 1993 | Muller-Hocker, J., Seibel, P., Schneiderbanger, K., Kadenbach, B. (1993) Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly Virchows Arch A, Pathological Anatomy and Histopathology . 422 (1): 7-15 . |
43 | 8218635 | 1993 | Kitagawa, T., Suganuma, N., Nawa, A., Kikkawa, F., Tanaka, M., Ozawa, T., Tomoda, Y. (1993) Rapid accumulation of deleted mitochondrial deoxyribonucleic acid in postmenopausal ovaries Biology of Reproduction . 49 (4): 730-736 . |
44 | 8232940 | 1993 | DiDonato, S., Zeviani, M., Giovannini, P., Savarese, N., Rimoldi, M., Mariotti, C., Girotti, F., Caraceni, T. (1993) Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients Neurology . 43 (11): 2262-2268 . |
45 | 8347829 | 1993 | Blanchard, B.J., Park, T., Fripp, W.J., Lerman, L.S., Ingram, V.M. (1993) A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue Neuroreport . 4 (6): 799-802 . |
46 | 8356010 | 1993 | Sano, T., Ban, K., Ichiki, T., Kobayashi, M., Tanaka, M., Ohno, K., Ozawa, T. (1993) Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome Pediatric Research . 34 (-): 105-110 . |
47 | 8365704 | 1993 | Suganuma, N., Kitagawa, T., Nawa, A., Tomoda, Y. (1993) Human ovarian aging and mitochondrial DNA deletion Hormone Research . 39 (Suppl 1): 16-21 . |
48 | 8396136 | 1993 | Bourgeron, T., Chretien, D., Rotig, A., Munnich, A., Rustin, P. (1993) Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures Journal of Biological Chemistry . 268 (26): 19369-19376 . |
49 | 8410517 | 1993 | Bernes, S.M., Bacino, C., Prezant, T.R., Pearson, M.A., Wood, T.S., Fournier, P., Fischel-Ghodsian, N. (1993) Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome Journal of Pediatrics . 123 (4): 598-602 . |
50 | 8513327 | 1993 | Brockington, M., Sweeney, M.G., Hammans, S.R., Morgan-Hughes, J.A., Harding, A.E. (1993) A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies Nature Genetics . 4 (1): 67-71 . |
51 | 7818280 | 1994 | Yang, J.H., Lee, H.C., Lin, K.J., Wei, Y.H. (1994) A specific 4977-bp deletion of mitochondrial DNA in human ageing skin Archives of Dermatological Research . 286 (7): 386-390 . |
52 | 7835898 | 1994 | Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., McKee, A.C., Beal, M.F., Graham, B.H., Wallace, D.C. (1994) Marked changes in mitochondrial DNA deletion levels in Alzheimer brains Genomics . 23 (2): 471-476 . |
53 | 7946321 | 1994 | Wang, H., Fliegel, L., Cass, C.E., Penn, A.M.W., Michalak, M., Weiner, J.H., Lemire, B.D. (1994) Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR Biotechniques . 17 (1): 76-78 . |
54 | 7957906 | 1994 | Lee, H.C., Pang, C.Y., Hsu, H.S., Wei, Y.H. (1994) Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle FEBS Letters . 354 (1): 79-83 . |
55 | 7999111 | 1994 | Lezza, A.M., Boffoli, D., Scacco, S., Cantatore, P., Gadaleta, M.N. (1994) Correlation between mitochondrial DNA 4977-bp deletion and respiratory chain enzyme activities in aging human skeletal muscles Biochemical and Biophysical Research Communications . 205 (1): 772-779 . |
56 | 8005516 | 1994 | Yen, T.C., King, K.L., Lee, H.C., Yeh, S.H., Wei, Y.H. (1994) Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria Free Radical Biology and Medicine . 16 (2): 207-214 . |
57 | 8018492 | 1994 | Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M.C., Rotig, A. (1994) Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome Pediatric Nephrology . 8 (2): 164-168 . |
58 | 8028607 | 1994 | Ernst, B.P., Wilichowski, E., Wagner, M., Hanefeld, F. (1994) Deletion screening of mitochondrial DNA via multiprimer DNA amplification Molecular and Cellular Probes . 8 (1): 45-49 . |
59 | 8037468 | 1994 | Pang, C.Y., Lee, H.C., Yang, J.H., Wei, Y.H. (1994) Human skin mitochondrial DNA deletions associated with light exposure Archives of Biochemistry and Biophysics . 312 (2): 534-538 . |
60 | 8061617 | 1994 | Hsieh, R.H., Hou, J.H., Hsu, H.S., Wei, Y.H. (1994) Age-dependent respiratory function decline and DNA deletions in human muscle mitochondria Biochemistry and Molecular Biology International (Sydney) . 32 (6): 1009-1022 . |
61 | 8064307 | 1994 | Fassati, A., Bordoni, A., Amboni, P., Fortunato, F., Fagiolari, G., Bresolin, N., Prelle, A., Comi, G., Scarlato, G. (1994) Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile Journal of the Neurological Sciences . 123 (40545): 140-146 . |
62 | 8106699 | 1994 | Remes, A.M., Hassinen, I.E., Ikaheimo, M.J., Herva, R., Hirvonen, J., Peuhkurinen, K.J. (1994) Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling Journal of the American College of Cardiology . 23 (4): 935-942 . |
63 | 8155737 | 1994 | Lee, H.C., Pang, C.Y., Hsu, H.S., Wei, Y.H. (1994) Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing Biochimica et Biophysica Acta . 1226 (1): 37-43 . |
64 | 8162014 | 1994 | Sciacco, M., Bonilla, E., Schon, E.A., DiMauro, S., Moraes, C.T. (1994) Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (published erratum appears in Hum. Mol. Genet. 3(4):687, 1994) Human Molecular Genetics . 3 (1): 13-19 . |
65 | 7581370 | 1995 | Rotig, A., Bourgeron, T., Chretien, D., Rustin, P., Munnich, A. (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome Human Molecular Genetics . 4 (8): 1327-1330 . |
66 | 7599213 | 1995 | Chen, X., Bonilla, E., Sciacco, M., Schon, E.A. (1995) Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients Biochimica et Biophysica Acta . 1271 (1): 229-233 . |
67 | 7603517 | 1995 | Moraes, C.T., Sciacco, M., Ricci, E., Tengan, C.H., Hao, H., Bonilla, E., Schon, E.A., DiMauro, S. (1995) Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions Muscle and Nerve . 3 (3): S150-S153 . |
68 | 7633428 | 1995 | Zhang, C., Baumer, A., Mackay, I.R., Linnane, A.W., Nagley, P. (1995) Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome Human Molecular Genetics . 4 (4): 751-754 . |
69 | 7641914 | 1995 | Keefe, D.L., Niven-Fairchild, T., Powell, S., Buradagunta, S. (1995) Mitochondrial deoxyribonucleic acid deletions in oocytes and reproductive aging in women Fertility and Sterility . 64 (3): 577-583 . |
70 | 7668249 | 1995 | Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G., Schon, E.A. (1995) Rearranged mitochondrial genomes are present in human oocytes American Journal of Human Genetics . 57 (2): 239-247 . |
71 | 7768499 | 1995 | Fukushima, S., Honda, K., Awane, M., Yamamoto, E., Takeda, R., Kaneko, I., Tanaka, A., Morimoto, T., Tanaka, K., Yamaoka, Y. (1995) The frequency of 4977 base pair deletion of mitochondrial DNA in various types of liver disease and in normal liver Hepatology . 21 (6): 1547-1551 . |
72 | 7779994 | 1995 | Kao, S., Chao, H.T., Wei, Y.H. (1995) Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm Biology of Reproduction . 52 (4): 729-736 . |
73 | 7806041 | 1995 | Fromenty, B., Grimbert, S., Mansouri, A., Beaugrand, M., Erlinger, S., Rotig, A., Pessayre, D. (1995) Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis. Gastroenterology . 108 (1): 193-200 . |
74 | 7850981 | 1995 | Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., Tanaka, H. (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation . 91 (4): 955-961 . |
75 | 7864879 | 1995 | Hamblet, N.S., Castora, F.J. (1995) Mitochondrial DNA deletion analysis: a comparison of PCR quantitative methods Biochemical and Biophysical Research Communications . 207 (2): 839-847 . |
76 | 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 . |
77 | 8777986 | 1996 | Maassen, J. A., Kadowaki, T. (1996) Maternally inherited diabetes and deafness: a new diabetes subtype Diabetologia . 39 (4): 375-382 . |
78 | 9233484 | 1997 | Bai, U., Seidman, M.D., Hinojosa, R., Quirk, W.S. (1997) Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study American Journal of Otology . 18 (4): 449-453 . |
79 | 9521479 | 1998 | Muller-Hocker, J., Jacob, U., Seibel, P. (1998) The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome Modern Pathology . 11 (3): 295-301 . |
80 | 9546274 | 1998 | Ueda, N., Oshima, T., Ikeda, K., Abe, K., Aoki, M., Takasaka, T. (1998) Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss Laryngoscope . 108 (4 Pt 1): 580-584 . |
81 | 9701788 | 1998 | Kao, S.H., Chao, H.T., Wei, Y.H. (1998) Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa Molecular Human Reproduction . 4 (7): 657-666 . |
82 | 9727847 | 1998 | Boles, R.G., Roe, T., Senadheera, D., Mahnovski, V., Wong, L.J. (1998) Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease European Journal of Pediatrics . 157 (8): 643-647 . |
83 | 9783850 | 1998 | Brenner, C.A., Wolny, Y.M., Barritt, J.A., Matt, D.W., Munne, S., Cohen, J. (1998) Mitochondrial DNA deletion in human oocytes and embryos Molecular Human Reproduction . 4 (9): 887-892 . |
84 | 9793208 | 1998 | Maximo, V., Sores, P., Rocha, A.S., Sobrinho-Simoes, M. (1998) The common deletion of mitochondrial DNA is found in goiters and thyroid tumors with and without oxyphil cell change Ultrastructural Pathology . 22 (3): 271-273 . |
85 | 9793648 | 1998 | Meissner, C., von Wurmb, N. (1998) Sensitive detection of the 4977-bp deletion in human mitochondrial DNA of young individuals Biotechniques . 25 (4): 652-654 . |
86 | 9799119 | 1998 | Porteous, W.K., James, A.M., Sheard, P.W., Porteous, C.M., Packer, M.A., Hyslop, S.J., Melton, J.V., Pang, C.Y., Wei, Y.H., Murphy, M.P. (1998) Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion European Journal of Biochemistry . 257 (1): 192-201 . |
87 | 10590409 | 2000 | Vu, T. H., Tanji, K., Pallotti, F., Golzi, V., Hirano, M., DiMauro, S., Bonilla, E. (2000) Analysis of mtDNA deletions in muscle by in situ hybridization Muscle and Nerve . 23 (1): 80-85 . |
88 | 10878549 | 2000 | Lewis, P. D., Baxter, P., Paul Griffiths, A., Parry, J. M., Skibinski, D. O. (2000) Detection of damage to the mitochondrial genome in the oncocytic cells of Warthin's tumour Journal of Pathology . 191 (3): 274-281 . |
89 | 11041526 | 2000 | Barritt, J. A., Brenner, C. A., Willadsen, S., Cohen, J. (2000) Spontaneous and artificial changes in human ooplasmic mitochondria Human Reproduction . 15 (Suppl 2): 207-217 . |
90 | 11113880 | 2000 | Lewis, P. D., Baxter, P. W., Griffiths, A. P., Parry, J. M., Skibinski, D. O. (2000) Authors' reply. Mitochondrial DNA damage and oncocytic neoplasia Journal of Pathology . 192 (4): 562-563 . |
91 | 11423217 | 2001 | Bai, U., Seidman, M. D. (2001) A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss Hearing Research . 154 (40545): 73-80 . |
92 | 16120283 | 2001 | Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 . |
93 | 12000737 | 2002 | Maximo, V., Soares, P., Lima, J., Cameselle-Teijeiro, J., Sobrinho-Simoes, M. (2002) Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hurthle cell tumors American Journal of Pathology . 160 (5): 1857-1865 . |
94 | 12009360 | 2002 | Hsieh, R. H., Tsai, N. M., Au, H. K., Chang, S. J., Wei, Y. H., Tzeng, C. R. (2002) Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes Fertility and Sterility . 77 (5): 1012-1017 . |
95 | 12576378 | 2003 | Lai, L. P., Tsai, C. C., Su, M. J., Lin, J. L., Chen, Y. S., Tseng, Y. Z., Huang, S. K. (2003) Atrial fibrillation is associated with accumulation of aging-related common type mitochondrial DNA deletion mutation in human atrial tissue Chest . 123 (2): 539-544 . |
96 | 12653657 | 2003 | Zhang, B., Ye, S., Sayer, A. A., Hammans, S. R., Adio, S., Hinks, L. J., Smythe, P. J., Groot, D., Cooper, C., Day, I. N. (2003) A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort Biochemical Society Transactions . 31 (2): 444-446 . |
97 | 12742534 | 2003 | Thayer, R. E., Wittock, R., Parr, R., Zullo, S., Birch-Machin, M. A. (2003) A maternal line study investigating the 4977-bp mitochondrial DNA deletion Experimental Gerontology . 38 (5): 567-571 . |
98 | 12781642 | 2003 | Dani, S. U., Dani, M. A., Simpson, A. J. (2003) The common mitochondrial DNA deletion delta mtDNA(4977): shedding new light to the concept of a tumor suppressor mutation Medical Hypotheses . 61 (1): 60-63 . |
99 | 14639589 | 2003 | Ro, L. S., Lai, S. L., Chen, C. M., Chen, S. T. (2003) Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study Muscle and Nerve . 28 (6): 737-743 . |
100 | 16120337 | 2003 | Pogozelski, W. K., Hamel, C. J. C., Woeller, C. F., Jackson, W. E., Zullo, S. J., Fischel-Ghodsian, N., Blakely, W. F. (2003) Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan(TM)) real-time polymerase chain reaction assay and plasmid external calibration standards Mitochondrion . 2 (6): 415-427 . |
101 | 15072414 | 2004 | Dai, P., Yang, W., Jiang, S., Gu, R., Yuan, H., Han, D., Guo, W., Cao, J. (2004) Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis Acta Oto Laryngologica . 124 (2): 130-136 . |
102 | 15076711 | 2004 | Mawrin, C., Kirches, E., Krause, G., Wiedemann, F. R., Vorwerk, C. K., Bogerts, B., Schildhaus, H. U., Dietzmann, K., Schneider-Stock, R. (2004) Single-cell analysis of mtDNA deletion levels in sporadic amyotrophic lateral sclerosis Neuroreport . 15 (6): 939-943 . |
103 | 15140232 | 2004 | Berneburg, M., Plettenberg, H., Medve-Konig, K., Pfahlberg, A., Gers-Barlag, H., Gefeller, O., Krutmann, J. (2004) Induction of the photoaging-associated mitochondrial common deletion in vivo in normal human skin Journal of Investigative Dermatology . 122 (5): 1277-1283 . |
104 | 15280047 | 2004 | Prithivirajsingh, S., Story, M. D., Bergh, S. A., Geara, F. B., Ang, K. K., Ismail, S. M., Stevens, C. W., Buchholz, T. A., Brock, W. A. (2004) Accumulation of the common mitochondrial DNA deletion induced by ionizing radiation FEBS Letters . 571 (40546): 227-232 . |
105 | 15313545 | 2004 | Samuels, D. C., Schon, E. A., Chinnery, P. F. (2004) Two direct repeats cause most human mtDNA deletions Trends in Genetics . 20 (9): 393-398 . |
106 | 16172025 | 2005 | Levin, B. C., Sekiguchi, K., Tully, L. A., Chen, T. L., Gropman, A. (2005) The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives Mitochondrion . 5 (6): 403-410 . |
107 | 16421213 | 2005 | Chan, C. C., Liu, V. W., Lau, E. Y., Yeung, W. S., Ng, E. H., Ho, P. C. (2005) Mitochondrial DNA content and 4977 bp deletion in unfertilized oocytes Molecular Human Reproduction . 11 (12): 843-846 . |
108 | 16632292 | 2006 | Mohamed, S. A., Hanke, T., Erasmi, A. W., Bechtel, M. J., Scharfschwerdt, M., Meissner, C., Sievers, H. H., Gosslau, A. (2006) Mitochondrial DNA deletions and the aging heart Experimental Gerontology . 41 (5): 508-517 . |
109 | 16804265 | 2006 | Houshmand, M., Panahi, M. S., Hosseini, B. N., Dorraj, G. H., Tabassi, A. R. (2006) Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external ophthalmoplegia Neurology India . 54 (2): 182-185 . |
110 | 17541740 | 2008 | Ye, C., Shu, X. O., Wen, W., Pierce, L., Courtney, R., Gao, Y. T., Zheng, W., Cai, Q. (2008) Quantitative analysis of mitochondrial DNA 4977-bp deletion in sporadic breast cancer and benign breast diseases Breast Cancer Research and Treatment . 108 (3): 427-434 . |
111 | 18197537 | 2008 | Rossato, L. B., Nunes, A. C., Pereira, M. L., de Souza, C. F., Dummer, C., Milani, V., Porsch, D. B., de Mattos, C. B., Barros, E. J. (2008) Prevalence of 4977bp deletion in mitochondrial DNA from patients with chronic kidney disease receiving conservative treatment or hemodialysis in southern Brazil Renal Failure . 30 (1): 9-14 . |
112 | 18305478 | 2008 | Krishnan, K. J., Reeve, A. K., Samuels, D. C., Chinnery, P. F., Blackwood, J. K., Taylor, R. W., Wanrooij, S., Spelbrink, J. N., Lightowlers, R. N., Turnbull, D. M. (2008) What causes mitochondrial DNA deletions in human cells? Nature Genetics . 40 (3): 275-279 . |
113 | 18413591 | 2008 | Garcia-Cazorla, A., Quadros, E. V., Nascimento, A., Garcia-Silva, M. T., Briones, P., Montoya, J., Ormazabal, A., Artuch, R., Sequeira, J. M., Blau, N., Arenas, J., Pineda, M., Ramaekers, V. T. (2008) Mitochondrial diseases associated with cerebral folate deficiency Neurology . 70 (16): 1360-1362 . |
114 | 18414780 | 2008 | Yamashita, S., Nishino, I., Nonaka, I., Goto, Y. (2008) Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions Journal of Human Genetics . 53 (7): 598-606 . |
115 | 18684894 | 2009 | Rao, M., Li, L., Demello, C., Guo, D., Jaber, B. L., Pereira, B. J., Balakrishnan, V. S. (2009) Mitochondrial DNA injury and mortality in hemodialysis patients Journal of the American Society of Nephrology . 20 (1): 189-196 . |
116 | 19015050 | 2009 | Melberg, A., Moslemi, A. R., Palm, O., Raininko, R., Stalberg, E., Oldfors, A. (2009) A patient with two mitochondrial DNA mutations causing PEO and LHON European Journal of Medical Genetics . 52 (1): 47-48 . |
117 | 20159320 | 2010 | Villa, A., Viera, M. H., Amini, S., Huo, R., Perez, O., Ruiz, P., Amador, A., Elgart, G., Berman, B. (2010) Decrease of ultraviolet A light-induced "common deletion" in healthy volunteers after oral Polypodium leucotomos extract supplement in a randomized clinical trial Journal of the American Academy of Dermatology . 62 (3): 511-513 . |
118 | 20164463 | 2010 | Greaves, L. C., Yu-Wai-Man, P., Blakely, E. L., Krishnan, K. J., Beadle, N. E., Kerin, J., Barron, M. J., Griffiths, P. G., Dickinson, A. J., Turnbull, D. M., Taylor, R. W. (2010) Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO Investigative Ophthalmology and Visual Science . 51 (7): 3340-3346 . |
119 | 20388556 | 2010 | Mkaouar-Rebai, E., Chamkha, I., Kammoun, T., Chabchoub, I., Aloulou, H., Fendri, N., Hachicha, M., Fakhfakh, F. (2010) A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles Mitochondrion . 10 (5): 449-455 . |
120 | 21291035 | 2010 | Tsai, H. D., Hsieh, Y. Y., Hsieh, J. N., Chang, C. C., Yang, C. Y., Yang, J. G., Cheng, W. L., Tsai, F. J., Liu, C. S. (2010) Mitochondria DNA deletion and copy numbers of cumulus cells associated with in vitro fertilization outcomes The Journal of Reproductive Medicine . 55 (11-12): 491-497 . |
121 | 22115768 | 2012 | Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F., Miller, G. (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular Genetics and Metabolism . 105 (1): 91-102 . |
122 | 22723804 | 2012 | Sequeira, A., Martin, M. V., Rollins, B., Moon, E. A., Bunney, W. E., Macciardi, F., Lupoli, S., Smith, E. N., Kelsoe, J., Magnan, C. N., van Oven, M., Baldi, P., Wallace, D. C., Vawter, M. P. (2012) Mitochondrial mutations and polymorphisms in psychiatric disorders Frontiers in Genetics . 3 (): 103 . |
123 | 24186072 | 2013 | Wallace, D. C., Chalkia, D. (2013) Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease Cold Spring Harbor. Perspectives in Biology 5 (11): a021220 |
124 | 26215577 | 2015 | Quan, C., Cho, M. K., Perry, D., Quan, T. (2015) Age-associated reduction of cell spreading induces mitochondrial DNA common deletion by oxidative stress in human skin dermal fibroblasts: implication for human skin connective tissue aging Journal of Biomedical Science . 22 (1): 62 . |
125 | 28111015 | 2017 | Phillips, A. F., Millet, A. R., Tigano, M., Dubois, S. M., Crimmins, H., Babin, L., Charpentier, M., Piganeau, M., Brunet, E., Sfeir, A. (2017) Single-molecule analysis of mtDNA replication uncovers the basis of the common deletion Molecular Cell . 65 (3): 527-538 e6 . |
126 | 29398297 | 2018 | Bacalhau, M., Simoes, M., Rocha, M. C., Hardy, S. A., Vincent, A. E., Duraes, J., Macario, M. C., Santos, M. J., Rebelo, O., Lopes, C., Pratas, J., Mendes, C., Zuzarte, M., Rego, A. C., Girao, H., Wong, L. C., Taylor, R. W., Grazina, M. (2018) Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant Neuromuscular Disorders . 28 (4): 350-360 . |
127 | 29474453 | 2018 | Huang, Y. H., Chen, C. M., Lee, Y. S., Chang, K. H., Chen, H. W., Chen, Y. C. (2018) Detection of mitochondrial DNA with 4977 bp deletion in leukocytes of patients with ischemic stroke PLoS One . 13 (2): e0193175 . |
128 | 29576854 | 2018 | Dzinic, T., Dencher, N. A. (2018) Oxygen concentration and oxidative stress modulate the influence of Alzheimer's disease Abeta1-42 peptide on human cells Oxidative Medicine and Cellular Longevity . 2018 (): 7567959 . |
129 | 30053637 | 2018 | Vecoli, C., Borghini, A., Pulignani, S., Mercuri, A., Turchi, S., Carpeggiani, C., Picano, E., Andreassi, M. G. (2018) Prognostic value of mitochondrial DNA(4977) deletion and mitochondrial DNA copy number in patients with stable coronary artery disease Atherosclerosis . 276 (): 91-97 . |
130 | 30076399 | 2018 | Trifunov, S., Pyle, A., Valentino, M. L., Liguori, R., Yu-Wai-Man, P., Burte, F., Duff, J., Kleinle, S., Diebold, I., Rugolo, M., Horvath, R., Carelli, V. (2018) Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells Scientific Reports . 8 (1): 11682 . |
131 | 29679261 | 2019 | Raposo, M., Ramos, A., Santos, C., Kazachkova, N., Teixeira, B., Bettencourt, C., Lima, M. (2019) Accumulation of mitochondrial DNA common deletion since the preataxic stage of Machado-Joseph disease Molecular Neurobiology . 56 (1): 119-124 . |
132 | 30847961 | 2019 | Fujii, T., Takase, K. I., Honda, H., Kawamura, N., Yamasaki, R., Urata, M., Uchiumi, T., Iwaki, T., Kira, J. I. (2019) Toxic myopathy with multiple deletions in mitochondrial DNA associated with long-term use of oral anti-viral drugs for hepatitis B: a case study Neuropathology . 39 (2): 162-167 . |
133 | 31044027 | 2019 | Yusoff, A. A. M., Abdullah, W. S. W., Khair, S., Radzak, S. M. A. (2019) A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies Oncology Reviews . 13 (1): 409 . |
134 | 31129670 | 2019 | Du, Z. D., He, L., Tu, C., Guo, X. A., Yu, S., Liu, K., Gong, S. (2019) Mitochondrial DNA 3,860-bp deletion increases with aging in the auditory nervous system of C57BL/6J mice ORL: Journal for Oto-Rhino-Laryngology and its Related Specialties . 81 (2-3): 92-100 . |