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Results: 1-13 |
Results: 13
The genetics and pathology of oxidative phosphorylation
Authors: Smeitink, J van den Heuvel, L DiMauro, S
Citation: J. Smeitink et al., The genetics and pathology of oxidative phosphorylation, NAT REV GEN, 2(5), 2001, pp. 342-352
Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene
Authors: van den Heuvel, L Op de Koul, K Knots, E Knoers, N Monnens, L
Citation: L. Van Den Heuvel et al., Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene, NEPH DIAL T, 16(1), 2001, pp. 48-51
Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
Authors: Loeffen, J Elpeleg, O Smeitink, J Smeets, R Stockler-Ipsiroglu, S Mandel, H Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Loeffen et al., Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, ANN NEUROL, 49(2), 2001, pp. 195-201
The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases
Authors: van den Heuvel, L Smeitink, J
Citation: L. Van Den Heuvel et J. Smeitink, The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases, BIOESSAYS, 23(6), 2001, pp. 518-525
Human NADH : ubiquinone oxidoreductase
Authors: Smeitink, J Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Smeitink et al., Human NADH : ubiquinone oxidoreductase, J BIOENER B, 33(3), 2001, pp. 259-266
Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
Authors: Papa, S Scacco, S Sardanelli, AM Vergari, R Papa, F Budde, S van den Heuvel, L Smeitink, J
Citation: S. Papa et al., Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome, FEBS LETTER, 489(2-3), 2001, pp. 259-262
Characterization of the human complex INDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients
Authors: Triepels, R Smeitink, J Loeffen, J Smeets, R Trijbels, F van den Heuvel, L
Citation: R. Triepels et al., Characterization of the human complex INDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients, HUM GENET, 106(4), 2000, pp. 385-391
Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Authors: Schuelke, M Smeitink, J Mariman, E Loeffen, J Plecko, B Trijbels, F Stockler-Ipsiroglu, S van den Heuvel, L
Citation: M. Schuelke et al., Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, NAT GENET, 21(3), 1999, pp. 260-261
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology
Authors: Triepels, R Smeitink, J Loeffen, J Smeets, R Buskens, C Trubels, F van den Heuvel, L
Citation: R. Triepels et al., The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology, J INH MET D, 22(2), 1999, pp. 163-173
The human NADH : ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients
Authors: Loeffen, J Smeets, R Smeitink, J Triepels, R Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Loeffen et al., The human NADH : ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients, J INH MET D, 22(1), 1999, pp. 19-28
Human mitochondrial complex I in health and disease
Authors: Smeitink, J van den Heuvel, L
Citation: J. Smeitink et L. Van Den Heuvel, Human mitochondrial complex I in health and disease, AM J HU GEN, 64(6), 1999, pp. 1505-1510
The nuclear-encoded human NADH : ubiquinone oxidoreductase NDUFA8 subunit:cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
Authors: Triepels, R van den Heuvel, L Loeffen, J Smeets, R Trijbels, F Smeitink, J
Citation: R. Triepels et al., The nuclear-encoded human NADH : ubiquinone oxidoreductase NDUFA8 subunit:cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients, HUM GENET, 103(5), 1998, pp. 557-563
The first nuclear-encoded complex I mutation in a patient with leigh syndrome
Authors: Loeffen, J Smeitink, A Triepels, R Smeets, R Schuelke, M Sengers, R Trijbels, F Hamel, B Mullaart, R van den Heuvel, L
Citation: J. Loeffen et al., The first nuclear-encoded complex I mutation in a patient with leigh syndrome, AM J HU GEN, 63(6), 1998, pp. 1598-1608
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