van den Heuvel L - 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. 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

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Janssen R, Smeitink J, Smeets R, van Den Heuvel L. Janssen R, et al. Among authors: van den heuvel l. Hum Genet. 2002 Mar;110(3):264-70. doi: 10.1007/s00439-001-0673-3. Epub 2002 Feb 1. Hum Genet. 2002. PMID: 11935339

3

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F. Huizing M, et al. Among authors: van den heuvel l. Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628. Am J Hum Genet. 1997. PMID: 9399886 Free PMC article.

4

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: van den heuvel l. Biochem Biophys Res Commun. 1998 Apr 17;245(2):599-606. doi: 10.1006/bbrc.1998.8486. Biochem Biophys Res Commun. 1998. PMID: 9571201

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. Among authors: van den heuvel l. 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

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: van den heuvel l. 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. Among authors: van den heuvel l. 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: van den heuvel l. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

9

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: van den heuvel l. J Inherit Metab Dis. 1999 Feb;22(1):19-28. doi: 10.1023/a:1005434912463. J Inherit Metab Dis. 1999. PMID: 10070614

10

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. Among authors: van den heuvel l. J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569. J Inherit Metab Dis. 1999. PMID: 10234612

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