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
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
Authors:
Corydon, MJ
Vockley, J
Rinaldo, P
Rhead, WJ
Kjeldsen, M
Winter, V
Riggs, C
Babovic-Vuksanovic, D
Smeitink, J
De Jong, J
Levy, H
Sewell, AC
Roe, C
Matern, D
Dasouki, M
Gregersen, N
Citation: Mj. Corydon et al., Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency, PEDIAT RES, 49(1), 2001, pp. 18-23
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
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
Authors:
Messina, A
Guarino, F
Oliva, M
van den Heuvel, LP
Smeitink, J
De Pinto, V
Citation: A. Messina et al., Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis, BIOC BIOP R, 270(3), 2000, pp. 787-792
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
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
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
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