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8128959 Baumer, A., Zhang, C., Linnane, A.W., Nagley, P. (1994) Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences American Journal of Human Genetics . 54 (4): 618-630 .
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8396136 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 .
8513327 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 .
2263455 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 .
1303288 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 .
1383759 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 .
7835898 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 .
2011523 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 .
1851820 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 .
NA DiMauro, S. (1993) Mitochondrial encephalomyopathies The Molecular and Genetic Basis of Neurological Disease Rosenberg, Prusiner, DiMauro, Barchi, and Kunkel (.): 665-694 Butterworth-Heinemann
NA Esteal, S. (1991) The relative rate of DNA evolution in primates Molecular Biology and Evolution . 8 (-): 115-127 .
1965208 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 .
1519437 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 .
1315844 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 .
1606473 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 .
2604380 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 .
2830540 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 .
2748329 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 .
8201329 Huang, C. C., Chen, R.S., Chen, C.M., Wang, H.S., Lee, C.C., Pang, C.Y., Hsu, H.S., Lee, H.C., Wei, Y.H. (1994) MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family Journal of Neurology, Neurosurgery and Psychiatry . 57 (5): 586-589 .
2390073 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 .
2381550 Johns, D. R. (1990) MtDNA deletions in Kearns-Sayre Neurology . 40 (8): 1322 .
2813377 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 .
8155737 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 .
2895391 Lestienne, P., Ponsot, G. (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion Lancet . 1 (8590): 885 .
1965280 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 .
1985462 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 .
2550906 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 .
2556715 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 .
2541333 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 .
1284549 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 .
7679851 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 .
1689952 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 .
8018492 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 .
1973036 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 .
2241948 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 .
8037468 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 .
2014792 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 .
8106699 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 .
2900946 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 .
2564980 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 .
2243133 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 .
1712754 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 .
8356010 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 .
2711184 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 .
8162014 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 .
2296377 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 .
1463763 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 .
1305030 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 .
1303287 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 .
8365704 Suganuma, N., Kitagawa, T., Nawa, A., Tomoda, Y. (1993) Human ovarian aging and mitochondrial DNA deletion Hormone Research . 39 (Suppl 1): 16-21 .
2803291 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 .
7946321 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 .
3412580 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 .
8005516 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 .