Trijbels F - Search Results

1

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. Among authors: trijbels f. J Inherit Metab Dis. 1999 Feb;22(1):19-28. doi: 10.1023/a:1005434912463. J Inherit Metab Dis. 1999. PMID: 10070614

2

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system.

Coenen MJ, Smeitink JA, Smeets R, Trijbels FJ, van den Heuvel LP. Coenen MJ, et al. Among authors: trijbels fj. J Inherit Metab Dis. 2005;28(6):1091-7. doi: 10.1007/s10545-005-4483-y. J Inherit Metab Dis. 2005. PMID: 16435202

3

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.

Coenen MJ, Smeitink JA, Farhoud MH, Nijtmans LG, Rodenburg R, Janssen A, van Kaauwen EP, Trijbels FJ, van den Heuvel LP. Coenen MJ, et al. Among authors: trijbels fj. J Inherit Metab Dis. 2006 Feb;29(1):212-3. doi: 10.1007/s10545-006-0185-3. J Inherit Metab Dis. 2006. PMID: 16601896

4

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. Among authors: trijbels f. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

5

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J. van den Heuvel L, et al. Among authors: trijbels f. Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716. Am J Hum Genet. 1998. PMID: 9463323 Free PMC article.

6

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. Among authors: trijbels f. Biochem Biophys Res Commun. 1998 Jun 29;247(3):751-8. doi: 10.1006/bbrc.1998.8882. Biochem Biophys Res Commun. 1998. PMID: 9647766

7

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. Among authors: trijbels f. J Inherit Metab Dis. 1998 Jun;21(3):210-5. doi: 10.1023/a:1005339332062. J Inherit Metab Dis. 1998. PMID: 9686359 No abstract available.

8

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.

Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L. Smeitink J, et al. Among authors: trijbels f. Hum Genet. 1998 Aug;103(2):245-50. doi: 10.1007/s004390050813. Hum Genet. 1998. PMID: 9760212

9

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. Among authors: trijbels f. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

10

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. Among authors: trijbels f. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

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