Mariman E - Search Results

1

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L. Schuelke M, et al. Among authors: mariman e. Nat Genet. 1999 Mar;21(3):260-1. doi: 10.1038/6772. Nat Genet. 1999. PMID: 10080174 No abstract available.

2

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

3

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

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. Among authors: mariman e. 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

Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA. Okhuijsen-Kroes EJ, et al. Among authors: mariman e. Neuropediatrics. 2001 Aug;32(4):183-90. doi: 10.1055/s-2001-17372. Neuropediatrics. 2001. PMID: 11571698 Review.

6

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, et al. Kremer H, et al. Among authors: mariman e. Nat Genet. 1995 Feb;9(2):160-4. doi: 10.1038/ng0295-160. Nat Genet. 1995. PMID: 7719343 Free article.

7

Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Jamieson CR, et al. Among authors: mariman e. Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357. Nat Genet. 1994. PMID: 7894486

8

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T. Lynch SA, et al. Among authors: mariman e. Nat Genet. 1995 Sep;11(1):93-5. doi: 10.1038/ng0995-93. Nat Genet. 1995. PMID: 7550324 Free article.

9

Clinical and molecular studies in a large Dutch family with Noonan syndrome.

van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. van der Burgt I, et al. Among authors: mariman e. Am J Med Genet. 1994 Nov 1;53(2):187-91. doi: 10.1002/ajmg.1320530213. Am J Med Genet. 1994. PMID: 7856646

10

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, et al. Kremer H, et al. Among authors: mariman e. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

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