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Results: 1-9 |
Results: 9
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
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
Necessary practical treatment of cystinuria at night
Authors: Monnens, LAH Noordam, K Trijbels, F
Citation: Lah. Monnens et al., Necessary practical treatment of cystinuria at night, PED NEPHROL, 14(12), 2000, pp. 1148-1149
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 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
New method for determining cystine in leukocytes and fibroblasts
Authors: de Graaf-Hess, A Trijbels, F Blom, H
Citation: A. De Graaf-hess et al., New method for determining cystine in leukocytes and fibroblasts, CLIN CHEM, 45(12), 1999, pp. 2224-2228
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: 1-9 |