Triepels RH - Search Results

1

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA. Triepels RH, et al. Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6. Ann Neurol. 1999. PMID: 10360771

2

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: triepels rh. Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734. Ann Neurol. 2003. PMID: 14595656

3

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

Smeitink JA, Loeffen JL, Triepels RH, Smeets RJ, Trijbels JM, van den Heuvel LP. Smeitink JA, et al. Among authors: triepels rh. Hum Mol Genet. 1998;7(10):1573-9. doi: 10.1093/hmg/7.10.1573. Hum Mol Genet. 1998. PMID: 9735378 Review.

4

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.

Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA. Loeffen JL, et al. Among authors: triepels rh. Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786. Biochem Biophys Res Commun. 1998. PMID: 9878551

5

cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.

Loeffen J, van den Heuvel L, Smeets R, Triepels R, Sengers R, Trijbels F, Smeitink J. Loeffen J, et al. Biochem Biophys Res Commun. 1998 Jun 29;247(3):751-8. doi: 10.1006/bbrc.1998.8882. Biochem Biophys Res Commun. 1998. PMID: 9647766

6

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

7

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.

Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J. Triepels R, et al. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

8

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.

Loeffen J, Smeets R, Smeitink J, Triepels R, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. J Inherit Metab Dis. 1999 Feb;22(1):19-28. doi: 10.1023/a:1005434912463. J Inherit Metab Dis. 1999. PMID: 10070614

9

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Triepels R, Smeitink J, Loeffen J, Smeets R, Buskens C, Trijbels F, van den Heuvel L. Triepels R, et al. J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569. J Inherit Metab Dis. 1999. PMID: 10234612

10

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Among authors: triepels rh. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.

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