-
1
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989;86:2379-2382.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 2379-2382
-
-
Ogasahara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
2
-
-
0030975555
-
Mitochondrial encephalomyopathy with coenzyme 010 deficiency
-
Sobreira C, Hirano M, Shanske S, et al. Mitochondrial encephalomyopathy with coenzyme 010 deficiency. Neurology. 1997;48:1238-1243.
-
(1997)
Neurology
, vol.48
, pp. 1238-1243
-
-
Sobreira, C.1
Hirano, M.2
Shanske, S.3
-
3
-
-
0032539874
-
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency
-
Boitier E, Degoul F, Desguerre I, et al. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci. 1998;156:41-46.
-
(1998)
J Neurol Sci
, vol.156
, pp. 41-46
-
-
Boitier, E.1
Degoul, F.2
Desguerre, I.3
-
4
-
-
0035859689
-
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
-
Di Giovanni S, Mirabella M, Spinazzola A, et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology. 2001;57:515-518.
-
(2001)
Neurology
, vol.57
, pp. 515-518
-
-
Di Giovanni, S.1
Mirabella, M.2
Spinazzola, A.3
-
5
-
-
0035836740
-
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
-
Musumeci O, Naini A, Slonim AE, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001;56:849-855.
-
(2001)
Neurology
, vol.56
, pp. 849-855
-
-
Musumeci, O.1
Naini, A.2
Slonim, A.E.3
-
6
-
-
0036895391
-
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
-
Van Maldergem L, Trijbels F, DiMauro S, et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol. 2002;52:750-754.
-
(2002)
Ann Neurol
, vol.52
, pp. 750-754
-
-
Van Maldergem, L.1
Trijbels, F.2
DiMauro, S.3
-
7
-
-
0034730011
-
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
-
Rötig A, Appelkvist EL, Geromel V, et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000;356:391-395.
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rötig, A.1
Appelkvist, E.L.2
Geromel, V.3
-
8
-
-
77956999492
-
Preparation and properties of NADH dehydrogenase from cardiac muscle
-
Estabrook R, Pullman M, eds. New York, NY: Academic Press
-
King TE, Howard RL. Preparation and properties of NADH dehydrogenase from cardiac muscle. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:275-294.
-
(1967)
Methods in Enzymology: Oxidation and Phosphorylation
, pp. 275-294
-
-
King, T.E.1
Howard, R.L.2
-
9
-
-
77956987911
-
Preparation of succinate dehydrogenase and reconstitution of succinate oxidase
-
Estabrook R, Pullman M, eds. New York, NY: Academic Press
-
King TE. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:322-331.
-
(1967)
Methods in Enzymology: Oxidation and Phosphorylation
, pp. 322-331
-
-
King, T.E.1
-
10
-
-
77957006730
-
Cytochrome oxidase: Beef heart
-
Estabrook R, Pullman M, eds. New York, NY: Academic Press
-
Yonetan T. Cytochrome oxidase: beef heart. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:332-335.
-
(1967)
Methods in Enzymology: Oxidation and Phosphorylation
, pp. 332-335
-
-
Yonetan, T.1
-
12
-
-
0002944617
-
PalmitoylCoA: Carnitine palmityltransferase
-
Norum K. PalmitoylCoA: carnitine palmityltransferase. Biochim Biophys Acta. 1964;89:95-108.
-
(1964)
Biochim Biophys Acta
, vol.89
, pp. 95-108
-
-
Norum, K.1
-
13
-
-
0029278917
-
Serum and muscle tissue ubiquinone levels in healthy subjects
-
Laaksonen R, Riihimaki A, Laitila J, Martensson K, Tikkanen MJ, Himberg JJ. Serum and muscle tissue ubiquinone levels in healthy subjects. J Lab Clin Med. 1995;125:517-521.
-
(1995)
J Lab Clin Med
, vol.125
, pp. 517-521
-
-
Laaksonen, R.1
Riihimaki, A.2
Laitila, J.3
Martensson, K.4
Tikkanen, M.J.5
Himberg, J.J.6
-
14
-
-
0032063536
-
Determination of ubiquinone 9 and 10 levels in rat tissues and blood by high-performance liquid chromatography with ultraviolet detection
-
Rousseau G, Varin F. Determination of ubiquinone 9 and 10 levels in rat tissues and blood by high-performance liquid chromatography with ultraviolet detection. J Chromatogr Sci. 1998;36:247-252.
-
(1998)
J Chromatogr Sci
, vol.36
, pp. 247-252
-
-
Rousseau, G.1
Varin, F.2
-
15
-
-
0024421922
-
Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: Implications for detection of respiratory chain defects
-
Wijburg FA, Feller N, Scholte HR, Przyrembel H, Wanders RJ. Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects. Biochem Int. 1989;19:563-570.
-
(1989)
Biochem Int
, vol.19
, pp. 563-570
-
-
Wijburg, F.A.1
Feller, N.2
Scholte, H.R.3
Przyrembel, H.4
Wanders, R.J.5
-
16
-
-
0026343898
-
Quantitaten of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation
-
Kler RS, Jackson S, Bartlett K, et al. Quantitaten of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J Biol Chem. 1991;266:22932-22938.
-
(1991)
J Biol Chem
, vol.266
, pp. 22932-22938
-
-
Kler, R.S.1
Jackson, S.2
Bartlett, K.3
-
17
-
-
0032951920
-
Primary and secondary alterations of neonatal carnitine metabolism
-
Scaglia F, Longo N. Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999;23:152-161.
-
(1999)
Semin Perinatol
, vol.23
, pp. 152-161
-
-
Scaglia, F.1
Longo, N.2
-
18
-
-
0037426430
-
Cerebellar ataxia and coenzyme Q10 deficiency
-
Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology. 2003;60:1206-1208.
-
(2003)
Neurology
, vol.60
, pp. 1206-1208
-
-
Lamperti, C.1
Naini, A.2
Hirano, M.3
-
19
-
-
0029042393
-
Biochemical, physiological and medical aspects of ubiquinone function
-
Ernster L, Dallner G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta. 1995;1271:195-204.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 195-204
-
-
Ernster, L.1
Dallner, G.2
-
20
-
-
0016690480
-
Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: Protonmotive ubiquinone cycle
-
Mitchell P. Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: protonmotive ubiquinone cycle. FEBS Lett. 1975;56:1-6.
-
(1975)
FEBS Lett
, vol.56
, pp. 1-6
-
-
Mitchell, P.1
-
21
-
-
13444268516
-
Transprenyltransferase (TPT) mutation in patients with coenzyme Q10 biosynthesis deficiency and mitochondrial disorder
-
Giurgea I, de Lonlay P, Cretien D, Rustin P, Munnich A, Rotig A. Transprenyltransferase (TPT) mutation in patients with coenzyme Q10 biosynthesis deficiency and mitochondrial disorder [abstract]. Am J Hum Genet. 2003;73:170.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 170
-
-
Giurgea, I.1
De Lonlay, P.2
Cretien, D.3
Rustin, P.4
Munnich, A.5
Rotig, A.6
|