-
1
-
-
0019423856
-
Sequence and organization of human mitochondrial genome
-
Anderson S, Bankier AT, Barrel BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger I, Schreier PH, Smith AJ, Staden R, Young IG. 1981. Sequence and organization of human mitochondrial genome. Nature 290:522-540.
-
(1981)
Nature
, vol.290
, pp. 522-540
-
-
Anderson, S.1
Bankier, A.T.2
Barrel, B.G.3
De Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, I.10
Schreier, P.H.11
Smith, A.J.12
Staden, R.13
Young, I.G.14
-
2
-
-
0033619147
-
Excercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. 1999. Excercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341:1037-1044.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
Hanna, M.G.2
Reichmann, H.3
Bruno, C.4
Penn, A.S.5
Tanji, K.6
Pallotti, F.7
Iwata, S.8
Bonilla, E.9
Lach, B.10
Morgan-Hughes, J.11
DiMauro, S.12
-
3
-
-
0027935776
-
Mitochondrial diabetes revisited
-
Ballinger SW, Shoffner JM, Gebhart S, Koontz DA, Wallace DC. 1994. Mitochondrial diabetes revisited. Nat Genet 7:458-459.
-
(1994)
Nat Genet
, vol.7
, pp. 458-459
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Gebhart, S.3
Koontz, D.A.4
Wallace, D.C.5
-
4
-
-
0029059965
-
Kearns-Sayre syndrome associated with mitochondrial DNA deletions or duplications: A molecular genetic and pathologic study
-
Brockington M, Alsanjari N, Sweeney MG, Morgan-Hughes JA, Scaravilli F, Harding AE. 1995. Kearns-Sayre syndrome associated with mitochondrial DNA deletions or duplications: A molecular genetic and pathologic study. J Neurol Sci 131:78-87.
-
(1995)
J Neurol Sci
, vol.131
, pp. 78-87
-
-
Brockington, M.1
Alsanjari, N.2
Sweeney, M.G.3
Morgan-Hughes, J.A.4
Scaravilli, F.5
Harding, A.E.6
-
5
-
-
0028156783
-
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
-
Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rotig A. 1994. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 124:63-70.
-
(1994)
J Pediatr
, vol.124
, pp. 63-70
-
-
Cormier-Daire, V.1
Bonnefont, J.P.2
Rustin, P.3
Maurage, C.4
Ogler, H.5
Schmitz, J.6
Ricour, C.7
Saudubray, J.M.8
Munnich, A.9
Rotig, A.10
-
6
-
-
0027381483
-
Maternally inherited partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
-
Dunbar DR, Moonie PA, Swingler RJ, Davidson D, Roberts R, Holt IJ. 1993. Maternally inherited partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Mol Genet 2:1619-1624.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1619-1624
-
-
Dunbar, D.R.1
Moonie, P.A.2
Swingler, R.J.3
Davidson, D.4
Roberts, R.5
Holt, I.J.6
-
7
-
-
0030752678
-
High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart
-
Fromenty B, Carrozzo R, Shanske S, Schon EA. 1997. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 71:443-452.
-
(1997)
Am J Med Genet
, vol.71
, pp. 443-452
-
-
Fromenty, B.1
Carrozzo, R.2
Shanske, S.3
Schon, E.A.4
-
8
-
-
0030811485
-
Behaviour of a population of partially duplicated mitochondrial DNA molecules in a cell culture: Segregation, maintenance and recombination dependent upon nuclear background
-
Holt IJ, Dunbar DR, Jacobs HT. 1997. Behaviour of a population of partially duplicated mitochondrial DNA molecules in a cell culture: Segregation, maintenance and recombination dependent upon nuclear background. Hum Mol Genet 6:1251-1260.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1251-1260
-
-
Holt, I.J.1
Dunbar, D.R.2
Jacobs, H.T.3
-
9
-
-
0030854939
-
Association of myopathy with large-scale mitochondrial duplication and deletion: Which is pathogenic?
-
Manfredi G, Vu T, Bonilla E, Schon EA, Di Mauro S, Amaudo E, Zhang C, Rowland LP, Hirano M. 1997. Association of myopathy with large-scale mitochondrial duplication and deletion: Which is pathogenic? Ann Neurol 42:180-188.
-
(1997)
Ann Neurol
, vol.42
, pp. 180-188
-
-
Manfredi, G.1
Vu, T.2
Bonilla, E.3
Schon, E.A.4
Di Mauro, S.5
Amaudo, E.6
Zhang, C.7
Rowland, L.P.8
Hirano, M.9
-
10
-
-
0029872652
-
Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
-
Moraes CT, Schon EA. 1996. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol 24:522-540.
-
(1996)
Methods Enzymol
, vol.24
, pp. 522-540
-
-
Moraes, C.T.1
Schon, E.A.2
-
11
-
-
0035931461
-
Clinical implications of duplicated mtDNA in Pearson Syndrome
-
Muraki K, Sakura N, Ueda H, Kihara H, Goto Y. 2001. Clinical implications of duplicated mtDNA in Pearson Syndrome. Am J Med Genet 98:205-209.
-
(2001)
Am J Med Genet
, vol.98
, pp. 205-209
-
-
Muraki, K.1
Sakura, N.2
Ueda, H.3
Kihara, H.4
Goto, Y.5
-
12
-
-
0026765439
-
Duplications of mitochondrial DNA: Implications for pathogenesis
-
Poulton J. 1992. Duplications of mitochondrial DNA: Implications for pathogenesis. J Inherit Metab Dis 15:487-498.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 487-498
-
-
Poulton, J.1
-
13
-
-
0024499802
-
Duplications of mitochondrial DNA in mitochondrial myopathy
-
Poulton J, Deadman ME, Mark Gardiner R. 1989. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet i:236-240.
-
(1989)
Lancet
, vol.1
, pp. 236-240
-
-
Poulton, J.1
Deadman, M.E.2
Mark Gardiner, R.3
-
14
-
-
0027403570
-
Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
-
Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. 1993. Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form. Hum Mol Genet 2:23-30.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
Morten, K.4
Land, J.5
Brown, G.6
-
15
-
-
0028998413
-
Duplications of mitochondrial DNA in Kearns-Sayre syndrome
-
Poulton J, Morten KJ, Marchington D, Weber K, Brown GK, Rotig A, Bindoff L. 1995. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 3(Suppl):S154-S158.
-
(1995)
Muscle Nerve
, vol.3
, Issue.SUPPL.
-
-
Poulton, J.1
Morten, K.J.2
Marchington, D.3
Weber, K.4
Brown, G.K.5
Rotig, A.6
Bindoff, L.7
-
16
-
-
0025133424
-
Pearson's marrow-pancreas syndrome: A multysistem mitochondrial disorder in infancy
-
Rotig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fisher A, Saudubray JM, Munnich A. 1990. Pearson's marrow-pancreas syndrome: A multysistem mitochondrial disorder in infancy. J Clin Invest 86:1601-1608.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
Bonnefont, J.P.4
Ledeist, F.5
Romero, N.6
Schmitz, J.7
Rustin, P.8
Fisher, A.9
Saudubray, J.M.10
Munnich, A.11
-
17
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
-
Rotig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. 1992. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50:364-370.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 364-370
-
-
Rotig, A.1
Bessis, J.L.2
Romero, N.3
Cormier, V.4
Saudubray, J.M.5
Narcy, P.6
Lenoir, G.7
Rustin, P.8
Munnich, A.9
-
18
-
-
0025873627
-
Clinical syndromes associated with ragged red fibers
-
Rowland LP, Blake DM, Hirano M, DiMauro S, Schon EA, Hays AP, DeVivo DC. 1991. Clinical syndromes associated with ragged red fibers. Rev Neurol 147:467-473.
-
(1991)
Rev Neurol
, vol.147
, pp. 467-473
-
-
Rowland, L.P.1
Blake, D.M.2
Hirano, M.3
DiMauro, S.4
Schon, E.A.5
Hays, A.P.6
DeVivo, D.C.7
-
19
-
-
0030925881
-
Pearson marrow pancreas syndrome: A molecular study and clinical management
-
Seneca S, DeMeirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W. 1997. Pearson marrow pancreas syndrome: A molecular study and clinical management. Clin Genet 51:338-342.
-
(1997)
Clin Genet
, vol.51
, pp. 338-342
-
-
Seneca, S.1
DeMeirleir, L.2
De Schepper, J.3
Balduck, N.4
Jochmans, K.5
Liebaers, I.6
Lissens, W.7
-
20
-
-
0034128803
-
Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression
-
Tang Y, Schon EA, Wilichowski E, Vasquez-Memije M, Davidson E, King MP. 2000a. Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell 11:1471-1485.
-
(2000)
Mol Biol Cell
, vol.11
, pp. 1471-1485
-
-
Tang, Y.1
Schon, E.A.2
Wilichowski, E.3
Vasquez-Memije, M.4
Davidson, E.5
King, M.P.6
-
21
-
-
0033928582
-
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines
-
Tang Y, Manfredi G, Hirano M, Schon EA. 2000b. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Mol Biol Cell 11:2349-2358.
-
(2000)
Mol Biol Cell
, vol.11
, pp. 2349-2358
-
-
Tang, Y.1
Manfredi, G.2
Hirano, M.3
Schon, E.A.4
-
22
-
-
0032570932
-
Duplication and triplication with staggered breakpoints in human mitochondrial DNA
-
Tengan CH, Moraes CTM. 1998a. Duplication and triplication with staggered breakpoints in human mitochondrial DNA. Biochim Biophys Acta 1406:73-80.
-
(1998)
Biochim Biophys Acta
, vol.1406
, pp. 73-80
-
-
Tengan, C.H.1
Moraes, C.T.M.2
-
23
-
-
0031594759
-
Mitochondrial encephalomyopathy and hypoparathyrodism associated witha a duplication and a deletion of mitochondrial deoxyribonucleic acid
-
Tengan CH, Kiyomoto BH, Rocha MS, Tavares VLS, Gabbai AA, Moraes CT. 1998b. Mitochondrial encephalomyopathy and hypoparathyrodism associated witha a duplication and a deletion of mitochondrial deoxyribonucleic acid. J Clin Endocrinol Metab 83:125-129.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 125-129
-
-
Tengan, C.H.1
Kiyomoto, B.H.2
Rocha, M.S.3
Tavares, V.L.S.4
Gabbai, A.A.5
Moraes, C.T.6
-
24
-
-
0028306096
-
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA
-
Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli M, Di Muzio A, Ricci E, Mirabella M, Di Mauro S, Tonali P. 1994. Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA. Muscle Nerve 17:667-674.
-
(1994)
Muscle Nerve
, vol.17
, pp. 667-674
-
-
Uncini, A.1
Servidei, S.2
Silvestri, G.3
Manfredi, G.4
Sabatelli, M.5
Di Muzio, A.6
Ricci, E.7
Mirabella, M.8
Di Mauro, S.9
Tonali, P.10
-
25
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. 1988. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
Rowland, L.P.7
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