-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier, AT, Barrell BG, et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
0023270306
-
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy
-
Arts FWM, Scholte HR, Loonen MCB (1987) Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy. J Neurol Sci 77: 103-115.
-
(1987)
J Neurol Sci
, vol.77
, pp. 103-115
-
-
Arts, F.W.M.1
Scholte, H.R.2
Loonen, M.C.B.3
-
3
-
-
0023070722
-
MR of Leigh's disease (subacute necrotizing encephalopathy)
-
Davis PC, Huffman JC, Braun IF, Anmann P, Krawiecki N (1987) MR of Leigh's disease (subacute necrotizing encephalopathy). Am J Neurol Res 8: 71-75.
-
(1987)
Am J Neurol Res
, vol.8
, pp. 71-75
-
-
Davis, P.C.1
Huffman, J.C.2
Braun, I.F.3
Anmann, P.4
Krawiecki, N.5
-
4
-
-
0023429777
-
Cytochrome c oxidase deficiency in Leigh syndrome
-
DiMauro S, Servidei S, Zeviani M, et al (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22: 498-506.
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
DiMauro, S.1
Servidei, S.2
Zeviani, M.3
-
6
-
-
0023136125
-
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh's disease)
-
Kretzschmar HA, DeArmond SJ, Koch TK, et al (1987) Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh's disease). Pediatrics 79: 370-373.
-
(1987)
Pediatrics
, vol.79
, pp. 370-373
-
-
Kretzschmar, H.A.1
DeArmond, S.J.2
Koch, T.K.3
-
7
-
-
0015928909
-
Oxidative phosphorylation in mitochondria isolated from human fibroblasts
-
Millis AJT, Pious DA (1973) Oxidative phosphorylation in mitochondria isolated from human fibroblasts. Biochim Biophys Acta 292: 73-77.
-
(1973)
Biochim Biophys Acta
, vol.292
, pp. 73-77
-
-
Millis, A.J.T.1
Pious, D.A.2
-
8
-
-
0024556632
-
Cytochrome c oxidase deficiency in Leigh's syndrome: Genetic evidence for a nuclear DNA-encoded mutation
-
Miranda AF, Ishii S, DiMauro S, Shay JW (1989) Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation. Neurology 39: 697-702.
-
(1989)
Neurology
, vol.39
, pp. 697-702
-
-
Miranda, A.F.1
Ishii, S.2
DiMauro, S.3
Shay, J.W.4
-
9
-
-
0014978910
-
Subacute necrotizing encephalopathy: A review and a study of two families
-
Montpetit VJA, Anderman F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Gibersun HR (1971) Subacute necrotizing encephalopathy: a review and a study of two families. Brain 94: 1-30.
-
(1971)
Brain
, vol.94
, pp. 1-30
-
-
Montpetit, V.J.A.1
Anderman, F.2
Carpenter, S.3
Fawcett, J.S.4
Zborowska-Sluis, D.5
Gibersun, H.R.6
-
10
-
-
0024843533
-
Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts
-
Old SE, DeVivo DC (1989) Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts. Ann Neurol 26: 746-751.
-
(1989)
Ann Neurol
, vol.26
, pp. 746-751
-
-
Old, S.E.1
DeVivo, D.C.2
-
11
-
-
0022407678
-
Rapid isolation of animal mitochondrial DNA by alkaline extraction
-
Palva TK, Palva ET (1985) Rapid isolation of animal mitochondrial DNA by alkaline extraction. FEBS Lett 192: 267-270.
-
(1985)
FEBS Lett
, vol.192
, pp. 267-270
-
-
Palva, T.K.1
Palva, E.T.2
-
12
-
-
0015293286
-
Subacute necrotizing encephalomyelopathy (Leigh's disease): A consideration of clinical features and etiology
-
Pincus JH (1972) Subacute necrotizing encephalomyelopathy (Leigh's disease): a consideration of clinical features and etiology. Dev Med Child Neurol 14: 87-101.
-
(1972)
Dev Med Child Neurol
, vol.14
, pp. 87-101
-
-
Pincus, J.H.1
-
13
-
-
0001728083
-
Partial resolution of the enzymes catalizing oxidative phosphorylation. I: Purification and properties of soluble dinitrophenol-stimulated adenosine triphosphatase
-
Pullman ME, Penefsky HS, Datta A, Racker E (1960) Partial resolution of the enzymes catalizing oxidative phosphorylation. I: Purification and properties of soluble dinitrophenol-stimulated adenosine triphosphatase. J Biol Chem 235: 3322-3329.
-
(1960)
J Biol Chem
, vol.235
, pp. 3322-3329
-
-
Pullman, M.E.1
Penefsky, H.S.2
Datta, A.3
Racker, E.4
-
14
-
-
0023918846
-
Cell culture studies on patients with mitochondrial diseases: Molecular defects in pyruvate dehydrogenase
-
Robinson BH (1988) Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase. J Bioenerg Biomembr 20: 313-323.
-
(1988)
J Bioenerg Biomembr
, vol.20
, pp. 313-323
-
-
Robinson, B.H.1
-
15
-
-
0022487208
-
Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia
-
Robinson BH, Ward J, Goodyer P, Baudet A (1986) Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. J Clin Invest 77: 1422-1427.
-
(1986)
J Clin Invest
, vol.77
, pp. 1422-1427
-
-
Robinson, B.H.1
Ward, J.2
Goodyer, P.3
Baudet, A.4
-
16
-
-
0027451284
-
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34: 827-834.
-
(1993)
Ann Neurol
, vol.34
, pp. 827-834
-
-
Santorelli, F.M.1
Shanske, S.2
Macaya, A.3
DeVivo, D.C.4
DiMauro, S.5
-
17
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T>G) can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodoulou J, Feigenbaum A, et al (1992) Heteroplasmic mtDNA mutation (T>G) can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852-858.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
18
-
-
0027244336
-
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
-
Tatuch Y, Robinson BH (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 192: 124-128.
-
(1993)
Biochem Biophys Res Commun
, vol.192
, pp. 124-128
-
-
Tatuch, Y.1
Robinson, B.H.2
-
19
-
-
0021759589
-
Oxidative phosphorylation and the Pi-ATP exchange reaction of submitochondrial particles under the influence of organic solvents
-
Tuena de Gomez-Puyou M, Ayala G, Darszon A, Gomez-Puyou A (1984) Oxidative phosphorylation and the Pi-ATP exchange reaction of submitochondrial particles under the influence of organic solvents. J Biol Chem 259: 9472-9478.
-
(1984)
J Biol Chem
, vol.259
, pp. 9472-9478
-
-
Tuena De Gomez-Puyou, M.1
Ayala, G.2
Darszon, A.3
Gomez-Puyou, A.4
-
20
-
-
0025831999
-
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenic speculations
-
Van Coster R, Lombes A, DiMauro S (1991) Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenic speculations. J Neurol Sci 104: 97-101.
-
(1991)
J Neurol Sci
, vol.104
, pp. 97-101
-
-
Van Coster, R.1
Lombes, A.2
DiMauro, S.3
-
21
-
-
0023084648
-
Benign reversible muscle cytochrome c oxidase deficiency
-
Zeviani M, Peterson P, Servidei S, Bonilla E, DiMauro S (1987) Benign reversible muscle cytochrome c oxidase deficiency. Neurol 37: 64-67.
-
(1987)
Neurol
, vol.37
, pp. 64-67
-
-
Zeviani, M.1
Peterson, P.2
Servidei, S.3
Bonilla, E.4
DiMauro, S.5
|