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Results: 1-7 |
Results: 7
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
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
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
Risultati: 1-7 |