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Results: 1-14 |
Results: 14
Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency
Authors: Niers, LEM Smeitink, JAM Trijbels, JMF Sengers, RCA Janssen, AJM van den Heuvel, LP
Citation: Lem. Niers et al., Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency, PRENAT DIAG, 21(10), 2001, pp. 871-880
Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation
Authors: Okhuijsen-Kroes, EJ Trijbels, JMF Sengers, RCA Mariman, E van den Heuvel, LP Wendel, U Koch, G Smeitink, JAM
Citation: Ej. Okhuijsen-kroes et al., Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation, NEUROPEDIAT, 32(4), 2001, pp. 183-190
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes
Authors: Calo, L Ceolotto, G Milani, M Pagnin, E van den Heuvel, LP Sartori, M Davis, PA Costa, R Semplicini, A
Citation: L. Calo et al., Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes, KIDNEY INT, 60(3), 2001, pp. 882-889
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
Authors: Triepels, RH Hanson, BJ van den Heuvel, LP Sundell, L Marusich, MF Smeitink, JA Capaldi, RA
Citation: Rh. Triepels et al., Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns, J BIOL CHEM, 276(12), 2001, pp. 8892-8897
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations
Authors: Rubio-Gozalbo, ME Dijkman, KP van den Heuvel, LP Sengers, RCA Wendel, U Smeitink, JAM
Citation: Me. Rubio-gozalbo et al., Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations, HUM MUTAT, 15(6), 2000, pp. 522-532
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Authors: Loeffen, JLCM Smeitink, JAM Trijbels, JMF Janssen, AJM Triepels, RH Sengers, RCA van den Heuvel, LP
Citation: Jlcm. Loeffen et al., Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects, HUM MUTAT, 15(2), 2000, pp. 123-134
Additional findings in Galloway-Mowat syndrome
Authors: Kucharczuk, K de Giorgi, AM Golden, J Zacharowicz, L van den Heuvel, LP Kaplan, BS
Citation: K. Kucharczuk et al., Additional findings in Galloway-Mowat syndrome, PED NEPHROL, 14(5), 2000, pp. 406-409
Nuclear genes and oxidative phosphorylation disorders: a review
Authors: Smeitink, JAM Sengers, RCA Trijbels, FJM van den Heuvel, LP
Citation: Jam. Smeitink et al., Nuclear genes and oxidative phosphorylation disorders: a review, EUR J PED, 159, 2000, pp. S227-S231
Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis
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
Nijmegen breakage syndrome
Authors: Hiel, JA Weemaes, CM van den Heuvel, LP van Engelen, BG Gabreels, FJ Smeets, DF van der Burgt, I Chrzanovska, KH Bernatowska, E Krajewska-Walasek, M Bialecka, M Abramczuk, D Gregorek, H Michalkiewicz, I Perek, D Midro, AT Seemanova, E Belohradsky, BH Solder, B Barbi, G Wegner, RD Sperling, K Dixon, J Maraschio, P Marseglia, GL Green, A Taylor, AM Der Kaloustian, VM Komatsu, K Matsuura, S Conley, ME Concannon, P Gatti, RA
Citation: Ja. Hiel et al., Nijmegen breakage syndrome, ARCH DIS CH, 82(5), 2000, pp. 400-406
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Authors: Triepels, RH van den Heuvel, LP Loeffen, JLCM Buskens, CAF Smeets, RJP Gozalbo, MER Budde, SMS Mariman, EC Wijburg, FA Barth, PG Trijbels, JMF Smeitink, JAM
Citation: Rh. Triepels et al., Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, ANN NEUROL, 45(6), 1999, pp. 787-790
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency
Authors: Coenen, MJH van den Heuvel, LP Nijtmans, LGJ Morava, E Marquardt, I Girschick, HJ Trijbels, FJM Grivell, LA Smeitink, JAM
Citation: Mjh. Coenen et al., SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency, BIOC BIOP R, 265(2), 1999, pp. 339-344
Mapping of the human voltage-dependent anion channel isoforms 1 and 2 reconsidered
Authors: Messina, A Oliva, M Rosato, C Huizing, M Ruitenbeek, W van den Heuvel, LP Forte, M Rocchi, N De Pinto, V
Citation: A. Messina et al., Mapping of the human voltage-dependent anion channel isoforms 1 and 2 reconsidered, BIOC BIOP R, 255(3), 1999, pp. 707-710
cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed
Authors: Loeffen, JLCM Triepels, RH van den Heuvel, LP Schuelke, M Buskens, CAF Smeets, RJP Trijbels, JMF Smeitink, JAM
Citation: Jlcm. Loeffen et al., cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed, BIOC BIOP R, 253(2), 1998, pp. 415-422
Risultati: 1-14 |