-
1
-
-
0021345994
-
Mitochondrial myopathy: Clinical, morphological and biochemical aspects
-
Sengers RCA, Stadhouders AM, Trijbels JMF. Mitochondrial myopathy: clinical, morphological and biochemical aspects. Eur J Pediatr 1984,141:192-207.
-
(1984)
Eur J Pediatr
, vol.141
, pp. 192-207
-
-
Sengers, R.C.A.1
Stadhouders, A.M.2
Trijbels, J.M.F.3
-
3
-
-
0026539971
-
Variable presentation of cytochrome c oxidase deficiency
-
Keppler K, Cunniff C: Variable presentation of cytochrome c oxidase deficiency. Am J Dis Child 1992;146:1349-52.
-
(1992)
Am J Dis Child
, vol.146
, pp. 1349-1352
-
-
Keppler, K.1
Cunniff, C.2
-
4
-
-
0026508114
-
Cytochrome c oxidase-deficient mitochondria in mitochondrial myopathy
-
Haginoya K, Miyabayashi S, Iinuma K, et al: Cytochrome c oxidase-deficient mitochondria in mitochondrial myopathy. Pediatr Neurol 1992,8:13-8.
-
(1992)
Pediatr Neurol
, vol.8
, pp. 13-18
-
-
Haginoya, K.1
Miyabayashi, S.2
Iinuma, K.3
-
5
-
-
0024470348
-
Tissue specificity in cytochrome c oxidase c deficient myopathy
-
Nonaka I, Koga Y, Ohtaki E, et al: Tissue specificity in cytochrome c oxidase c deficient myopathy. J Neurol Sci 1989;92:193-203.
-
(1989)
J Neurol Sci
, vol.92
, pp. 193-203
-
-
Nonaka, I.1
Koga, Y.2
Ohtaki, E.3
-
6
-
-
0025130052
-
Mosaicism of mitochondrial myopathy: An electron microscopic analysis of cytochrome c oxidase
-
Haginoya K, Miyabayashi S, Iinuma K, et al: Mosaicism of mitochondrial myopathy: an electron microscopic analysis of cytochrome c oxidase. Acta Neuropathol 1990;80:642-8.
-
(1990)
Acta Neuropathol
, vol.80
, pp. 642-648
-
-
Haginoya, K.1
Miyabayashi, S.2
Iinuma, K.3
-
7
-
-
0014311556
-
Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polimerising osmiophilic reagent diaminobenzidine (DAB)
-
Seligman AM, Karnovsky MJ, Wasserkrug HL, et al: Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polimerising osmiophilic reagent diaminobenzidine (DAB). J Cell Biol 1968;38:1-14.
-
(1968)
J Cell Biol
, vol.38
, pp. 1-14
-
-
Seligman, A.M.1
Karnovsky, M.J.2
Wasserkrug, H.L.3
-
8
-
-
0024814593
-
Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy
-
Miyabayashi S, Hagionoya K, Hanamizu H, et al: Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy. J Inher Metab Dis 1989;12:373-7.
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 373-377
-
-
Miyabayashi, S.1
Hagionoya, K.2
Hanamizu, H.3
-
9
-
-
0025123850
-
The use of skin fibroblast cultures m the detection of respiratory chain defects in patients with lactic acidemia
-
Robinson BH, Glerum DM, Chow W, et al: The use of skin fibroblast cultures m the detection of respiratory chain defects in patients with lactic acidemia. Pediatr Res 1990;28:549-55.
-
(1990)
Pediatr Res
, vol.28
, pp. 549-555
-
-
Robinson, B.H.1
Glerum, D.M.2
Chow, W.3
-
10
-
-
0028314245
-
Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle
-
Das AM, Schweitzer-Kfantz S, Byrd DJ, et al: Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle. Eur J Pediatr 1994;153:267-70.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 267-270
-
-
Das, A.M.1
Schweitzer-Kfantz, S.2
Byrd, D.J.3
-
11
-
-
0022471112
-
Mitochondrial myopathy : Tissue specific expression of a defect in ubiquinal cytochrome c reductase
-
Darley-Usmar VM, Watanabe M, Uchiyama Y, et al: Mitochondrial myopathy : tissue specific expression of a defect in ubiquinal cytochrome c reductase. Clin Chim Acta 1986;158 253-61.
-
(1986)
Clin Chim Acta
, vol.158
, pp. 253-261
-
-
Darley-Usmar, V.M.1
Watanabe, M.2
Uchiyama, Y.3
-
12
-
-
0023319097
-
Variation in the levels of Complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction
-
Tanaka M, Nishikimi M, Wasserkrug HL, et al: Variation in the levels of Complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction. Biochem Int 1987;14:735-9.
-
(1987)
Biochem Int
, vol.14
, pp. 735-739
-
-
Tanaka, M.1
Nishikimi, M.2
Wasserkrug, H.L.3
-
13
-
-
0027955658
-
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
-
Edery P, Geraed B, Chretien D, et al: Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 1994;153:190-4.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 190-194
-
-
Edery, P.1
Geraed, B.2
Chretien, D.3
-
14
-
-
0023429777
-
Cytochrome c oxidase deficiency m Leigh syndrome
-
DiMauro S, Servidei S, Zeviani M, et al: Cytochrome c oxidase deficiency m Leigh syndrome. Ann Neurol 1987;22:498-506.
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
DiMauro, S.1
Servidei, S.2
Zeviani, M.3
-
15
-
-
0021869356
-
Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera
-
Kuhn-Nentwig L, Kadenbach B: Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera. Eur J Biochem 1985;149:147-58.
-
(1985)
Eur J Biochem
, vol.149
, pp. 147-158
-
-
Kuhn-Nentwig, L.1
Kadenbach, B.2
-
16
-
-
0029014248
-
Ile 4269 mutation): Histochernical, immunohistochemical and ultrastructural study
-
Ile 4269 mutation): histochernical, immunohistochemical and ultrastructural study. J Neurol Sci 1995;131:170-6.
-
(1995)
J Neurol Sci
, vol.131
, pp. 170-176
-
-
Kaido, M.1
Fujimura, H.2
Taniike, M.3
-
17
-
-
0023692817
-
Familial mitochondrial myopathy associated with peripheral neuropathy: Partial deficiencies of complex I and complex IV
-
Mizusawa H, Watanabe M, Kanazawa I, et al: Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV. J Neurol Sci 1988;86:171-84.
-
(1988)
J Neurol Sci
, vol.86
, pp. 171-184
-
-
Mizusawa, H.1
Watanabe, M.2
Kanazawa, I.3
-
19
-
-
0017191458
-
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency
-
Reynolds SF, Blass JP: A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. Neurology 1976;26:625-8.
-
(1976)
Neurology
, vol.26
, pp. 625-628
-
-
Reynolds, S.F.1
Blass, J.P.2
-
20
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects
-
Anan R, Nakagawa M, Miyata M, et al: Cardiac involvement in mitochondrial diseases: a study on 17 patients with documented mitochondrial DNA defects. Circulation 1995;91: 955-61
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
-
21
-
-
0022975558
-
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
-
Zaviani M, VanDvke DH, Servidei S, et al: Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol 1986,43:1198-202.
-
(1986)
Arch Neurol
, vol.43
, pp. 1198-1202
-
-
Zaviani, M.1
Vandvke, D.H.2
Servidei, S.3
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