Loeffen J - Search Results

1

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: loeffen j. Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716. Am J Hum Genet. 1998. PMID: 9463323 Free PMC article.

2

Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?

Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L. Schuelke M, et al. Among authors: loeffen j. Biochem Biophys Res Commun. 1998 Apr 17;245(2):599-606. doi: 10.1006/bbrc.1998.8486. Biochem Biophys Res Commun. 1998. PMID: 9571201

3

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

4

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. 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.

5

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: loeffen jl. Hum Mol Genet. 1998;7(10):1573-9. doi: 10.1093/hmg/7.10.1573. Hum Mol Genet. 1998. PMID: 9735378 Review.

6

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: loeffen j. Hum Genet. 1998 Aug;103(2):245-50. doi: 10.1007/s004390050813. Hum Genet. 1998. PMID: 9760212

7

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.

8

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: loeffen j. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

9

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. Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786. Biochem Biophys Res Commun. 1998. PMID: 9878551

10

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

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