-
1
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC: Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-212.
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
2
-
-
0002600547
-
Report of the committee on human mitochondrial DNA
-
Cuticchia AJ, ed. Baltimore: Johns Hopkins University Press
-
Wallace DC, Lott MT, Brown MD, et al: Report of the committee on human mitochondrial DNA. In: Cuticchia AJ, ed. Human Gene Mapping, 1995: A Compendium. Baltimore: Johns Hopkins University Press, 1995:910-54.
-
(1995)
Human Gene Mapping, 1995: A Compendium
, pp. 910-954
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
-
3
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1995;331:717-9.
-
(1995)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
4
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, et al: Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-46.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
5
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, et al: Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320: 1293-9.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
6
-
-
0026180131
-
Site-specific deletions of the mitochondrial genome in the pearson marrow-pancreas syndrome
-
Rotig A, Cormier V, Koll F, et al: Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics 1991;10:502-4.
-
(1991)
Genomics
, vol.10
, pp. 502-504
-
-
Rotig, A.1
Cormier, V.2
Koll, F.3
-
7
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4-kb mitochondrial DNA deletion
-
Ballinger SW, Shoffner JM, Hedaya EV, et al: Maternally transmitted diabetes and deafness associated with a 10.4-kb mitochondrial DNA deletion. Nat Genet 1992;1: 11-5.
-
(1992)
Nat Genet
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
-
8
-
-
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, et al: Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 1993;2:23-30.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
-
10
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348: 651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
11
-
-
0025534162
-
Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-22.
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
-
12
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mtDNA-less cells with myopathy-patient mitochondria
-
Chomyn A, Meola G, Bresolin N, et al: In vitro genetic transfer of protein synthesis and respiration defects to mtDNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991;11:2236-44.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
-
13
-
-
0026573082
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol 1992;12:480-90.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
-
14
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988:242:1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
15
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt IJ, Harding AE, Petty RK, et al: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-33.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.3
-
16
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh syndrome
-
de Vries DD, van Engelen BG, Gabreels FJ, et al: A second missense mutation in the mitochondrial ATPase 6 gene in Leigh syndrome. Ann Neurol 1993;34:410-2.
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
Van Engelen, B.G.2
Gabreels, F.J.3
-
17
-
-
0027936218
-
Cytoplasmic transfer of the mtDNA nt 8993 TÆG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
-
Trounce I, Neill S, Wallace DC, et al: Cytoplasmic transfer of the mtDNA nt 8993 TÆG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci USA 1994; 91:8334-8.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8334-8338
-
-
Trounce, I.1
Neill, S.2
Wallace, D.C.3
-
18
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gelera C, et al: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339: 309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gelera, C.3
-
19
-
-
0025371499
-
Oxidative phosphorylation diseases. Disorders of two genomes
-
Shoffner JM, Wallace DC: Oxidative phosphorylation diseases. Disorders of two genomes. Adv Hum Genet 1990; 19:267-330.
-
(1990)
Adv Hum Genet
, vol.19
, pp. 267-330
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
21
-
-
0027158123
-
Overlapping syndrome of MERRF and MELAS: Molecular and neuroradiological studies
-
Chen RS, Huang CC, Lee CC, et al: Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993;87: 494-8.
-
(1993)
Acta Neurol Scand
, vol.87
, pp. 494-498
-
-
Chen, R.S.1
Huang, C.C.2
Lee, C.C.3
-
22
-
-
0027163613
-
Ophthalmologic manifestations in MELAS syndrome
-
Fang W, Huang CC, Lee CC, et al: Ophthalmologic manifestations in MELAS syndrome. Arch Neurol 1993;50: 977-80.
-
(1993)
Arch Neurol
, vol.50
, pp. 977-980
-
-
Fang, W.1
Huang, C.C.2
Lee, C.C.3
-
23
-
-
0029102935
-
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: A case report from Taiwan
-
Yang CY, Lam HC, Lee HC, et al: MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. Clin Endocrinol 1995;43: 235-9.
-
(1995)
Clin Endocrinol
, vol.43
, pp. 235-239
-
-
Yang, C.Y.1
Lam, H.C.2
Lee, H.C.3
-
24
-
-
0030056571
-
MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA
-
Li JY, Kong KW, Chang MH, et al: MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. Acta Neurol Scand 1996;93:450-5.
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 450-455
-
-
Li, J.Y.1
Kong, K.W.2
Chang, M.H.3
-
26
-
-
0029045601
-
Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features
-
Huang CC, Fang W, Chen RS, et al: Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. Eur Neurol 1995;35:199-205.
-
(1995)
Eur Neurol
, vol.35
, pp. 199-205
-
-
Huang, C.C.1
Fang, W.2
Chen, R.S.3
-
27
-
-
0028394508
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): Report of a sporadic case and review of the literature
-
Lee ML, Chaou WT, Yang AD, et al: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): report of a sporadic case and review of the literature. Acta Paediatr Sin 1994;35:148-56.
-
(1994)
Acta Paediatr Sin
, vol.35
, pp. 148-156
-
-
Lee, M.L.1
Chaou, W.T.2
Yang, A.D.3
-
29
-
-
0028072138
-
MELAS syndrome: Correlation between clinical features and molecular genetic analysis
-
Liou CW, Huang CC, Chee ECY, et al: MELAS syndrome: correlation between clinical features and molecular genetic analysis. Acta Neurol Scand 1994;90:354-9.
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 354-359
-
-
Liou, C.W.1
Huang, C.C.2
Chee, E.C.Y.3
-
32
-
-
0029988652
-
Random mitotic segregation of mitochondrial DNA in MELAS syndrome
-
Huang CC, Chen RS, Chu NS, et al: Random mitotic segregation of mitochondrial DNA in MELAS syndrome. Acta Neurol Scand 1996;93:198-202.
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 198-202
-
-
Huang, C.C.1
Chen, R.S.2
Chu, N.S.3
-
33
-
-
0031806639
-
Large-scale deletions of mitochondrial DNA in patients with CPEO syndrome in Taiwan
-
Wang EK, Kao KP, Hsieh RH, et al: Large-scale deletions of mitochondrial DNA in patients with CPEO syndrome in Taiwan. J Biochem Mol Biol Biophys 1997;1: 165-70.
-
(1997)
J Biochem Mol Biol Biophys
, vol.1
, pp. 165-170
-
-
Wang, E.K.1
Kao, K.P.2
Hsieh, R.H.3
-
34
-
-
0027198359
-
Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of aging humans
-
Zhang C, Linnane AW, Nagley P: Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of aging humans. Biochem Biophys Res Commun 1993;195:1104-10.
-
(1993)
Biochem Biophys Res Commun
, vol.195
, pp. 1104-1110
-
-
Zhang, C.1
Linnane, A.W.2
Nagley, P.3
-
35
-
-
0029072026
-
Whole mitochondrial genome amplification reveals basal level multiple deletions in the mtDNA of patients with dilated cardiomyopathy
-
Li YY, Hengstenberg C, Maisch B: Whole mitochondrial genome amplification reveals basal level multiple deletions in the mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 1995;210: 211-8.
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 211-218
-
-
Li, Y.Y.1
Hengstenberg, C.2
Maisch, B.3
-
36
-
-
0029741620
-
Tandem duplications and large-scale deletions of mitochondrial DNA are early molecular events of human aging process
-
Wei YH, Pang CY, Yau BJ, et al: Tandem duplications and large-scale deletions of mitochondrial DNA are early molecular events of human aging process. Ann NY Acad Sci 1996;786:82-101.
-
(1996)
Ann NY Acad Sci
, vol.786
, pp. 82-101
-
-
Wei, Y.H.1
Pang, C.Y.2
Yau, B.J.3
-
39
-
-
0009402150
-
Mitochondrial DNA mutation in Chinese patients with Leber's hereditary optic neuropathy
-
Wei YH, Yen TC, Pang CY, et al: Mitochondrial DNA mutation in Chinese patients with Leber's hereditary optic neuropathy. Clinical Biotechnology 1991;3:243-7.
-
(1991)
Clinical Biotechnology
, vol.3
, pp. 243-247
-
-
Wei, Y.H.1
Yen, T.C.2
Pang, C.Y.3
-
41
-
-
0028349234
-
Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing
-
Lee HC, Pang CY, Hsu HS, et al: Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. Biochim Biophys Acta 1994;1226:37-43.
-
(1994)
Biochim Biophys Acta
, vol.1226
, pp. 37-43
-
-
Lee, H.C.1
Pang, C.Y.2
Hsu, H.S.3
-
42
-
-
0031594165
-
Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages
-
Liu VWS, Zhang C, Pang CY, et al: Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages. Hum Mutat 1998;11:191-6.
-
(1998)
Hum Mutat
, vol.11
, pp. 191-196
-
-
Liu, V.W.S.1
Zhang, C.2
Pang, C.Y.3
-
43
-
-
0026087562
-
Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease (MERRF)
-
Shih KD, Yen TC, Pang CY, et al: Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease (MERRF). Biochem Biophys Res Commun 1991;174:1109-16.
-
(1991)
Biochem Biophys Res Commun
, vol.174
, pp. 1109-1116
-
-
Shih, K.D.1
Yen, T.C.2
Pang, C.Y.3
-
46
-
-
13344278031
-
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome
-
Chen RS, Huang CC, Chu NS, et al: Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. Muscle Nerve 1996;94:519-21.
-
(1996)
Muscle Nerve
, vol.94
, pp. 519-521
-
-
Chen, R.S.1
Huang, C.C.2
Chu, N.S.3
-
47
-
-
0026663930
-
Mitochondrial DNA mutation in Leber's hereditary optic neuropathy
-
Yen MY, Yen TC, Pang CY, et al: Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 1992;33:2561-6.
-
(1992)
Invest Ophthalmol Vis Sci
, vol.33
, pp. 2561-2566
-
-
Yen, M.Y.1
Yen, T.C.2
Pang, C.Y.3
-
48
-
-
0027367677
-
Molecular diagnosis of Leber's hereditary optic neuropathy
-
Yen MY, Liu JH, Pang CY, et al: Molecular diagnosis of Leber's hereditary optic neuropathy. J Formos Med Assoc 1993;92:42-5.
-
(1993)
J Formos Med Assoc
, vol.92
, pp. 42-45
-
-
Yen, M.Y.1
Liu, J.H.2
Pang, C.Y.3
-
49
-
-
0030197977
-
Leigh syndrome associated with mitochondrial DNA 8993 T→g mutation and ragged-red fibers - A case report
-
Mak SC, Chi CS, Liu CY, et al: Leigh syndrome associated with mitochondrial DNA 8993 T→G mutation and ragged-red fibers - a case report. Pediatr Neurol 1996;15: 72-5.
-
(1996)
Pediatr Neurol
, vol.15
, pp. 72-75
-
-
Mak, S.C.1
Chi, C.S.2
Liu, C.Y.3
-
50
-
-
0031819492
-
Mitochondrial DNA 8993 T→c mutation presenting as juvenile Leigh syndrome with respiratory failure
-
Mak SC, Chi CS, Tsai CR: Mitochondrial DNA 8993 T→C mutation presenting as juvenile Leigh syndrome with respiratory failure. J Child Neurol 1998;13:349-51.
-
(1998)
J Child Neurol
, vol.13
, pp. 349-351
-
-
Mak, S.C.1
Chi, C.S.2
Tsai, C.R.3
-
51
-
-
0030053091
-
Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy
-
Yen MY, Lee HC, Lee JF, et al: Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy. Br J Ophthalmol 1996;80:78-81.
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 78-81
-
-
Yen, M.Y.1
Lee, H.C.2
Lee, J.F.3
-
52
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
-
Newman NJ, Lott MT, Wallace DC: The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;111:750-62.
-
(1991)
Am J Ophthalmol
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
53
-
-
0027195652
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation
-
Johns DR, Smith KH, Savino PJ, et al: Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Arch Ophthalmol 1993;110:981-6.
-
(1993)
Arch Ophthalmol
, vol.110
, pp. 981-986
-
-
Johns, D.R.1
Smith, K.H.2
Savino, P.J.3
-
54
-
-
0027502505
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
-
Johns DR, Heher KL, Miller NR, et al: Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-8.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 495-498
-
-
Johns, D.R.1
Heher, K.L.2
Miller, N.R.3
-
55
-
-
0027326777
-
High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy
-
Mashima Y, Hiida Y, Oguchi Y, et al: High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. Hum Genet 1993;92:101-2.
-
(1993)
Hum Genet
, vol.92
, pp. 101-102
-
-
Mashima, Y.1
Hiida, Y.2
Oguchi, Y.3
-
56
-
-
0026906885
-
Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1: 368-71.
-
(1992)
Nature Genet
, vol.1
, pp. 368-371
-
-
Ouweland, J.M.1
Lemkes, H.H.P.2
Ruitenbeek, W.3
-
58
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC: Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
59
-
-
0025674177
-
Detection of a specific mitochondrial DNA deletion in tissues of older humans
-
Cortopassi GA, Arnheim N: Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 1990;18:6927-33.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 6927-6933
-
-
Cortopassi, G.A.1
Arnheim, N.2
-
60
-
-
0027476395
-
The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages
-
Münscher C, Rieger T, Müller-Höcker J, et al: The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett 1993;317:27-30.
-
(1993)
FEBS Lett
, vol.317
, pp. 27-30
-
-
Münscher, C.1
Rieger, T.2
Müller-Höcker, J.3
-
61
-
-
2542505678
-
Oxidative stress and mitochondrial DNA mutations in human aging
-
Wei YH: Oxidative stress and mitochondrial DNA mutations in human aging. Proc Soc Exp Biol Med 1998;217: 53-63.
-
(1998)
Proc Soc Exp Biol Med
, vol.217
, pp. 53-63
-
-
Wei, Y.H.1
|