de Coo RF - Search Results

1

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA. Sistermans EA, et al. Among authors: de coo rf. Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477. Eur J Hum Genet. 2000. PMID: 10909858

2

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Among authors: de wijs ij, de coo rf. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

3

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Sistermans EA, et al. Among authors: de wijs ij, de coo rf. Neurology. 1998 Jun;50(6):1749-54. doi: 10.1212/wnl.50.6.1749. Neurology. 1998. PMID: 9633722

4

The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.

de Coo RF, Buddiger PA, Smeets HJ, van Oost BA. de Coo RF, et al. Mamm Genome. 1999 Jan;10(1):49-53. doi: 10.1007/s003359900941. Mamm Genome. 1999. PMID: 9892733

5

Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).

de Coo RF, Buddiger P, Smeets HJ, van Oost BA. de Coo RF, et al. Genomics. 1997 Oct 15;45(2):434-7. doi: 10.1006/geno.1997.4930. Genomics. 1997. PMID: 9344673

6

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.

de Coo R, Buddiger P, Smeets H, Geurts van Kessel A, Morgan-Hughes J, Weghuis DO, Overhauser J, van Oost B. de Coo R, et al. Genomics. 1995 Apr 10;26(3):461-6. doi: 10.1016/0888-7543(95)80163-g. Genomics. 1995. PMID: 7607668 Free article.

7

Phenotypic consequences of a novel SCO2 gene mutation.

Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R. Verdijk RM, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. Am J Med Genet A. 2008. PMID: 18924171

8

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H. van Domburg PH, et al. Brain. 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. Brain. 1996. PMID: 8673507 Free article.

9

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: de coo rf. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

10

Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.

Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al. Bentlage H, et al. Eur J Biochem. 1995 Feb 1;227(3):909-15. doi: 10.1111/j.1432-1033.1995.tb20218.x. Eur J Biochem. 1995. PMID: 7867654 Free article.

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