Smeets R - Search Results

1

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

2

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP. Smeets RJ, et al. J Hum Genet. 2003;48(1):8-13. doi: 10.1007/s100380300001. J Hum Genet. 2003. PMID: 12560872

3

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: smeets r. Hum Genet. 2002 Mar;110(3):264-70. doi: 10.1007/s00439-001-0673-3. Epub 2002 Feb 1. Hum Genet. 2002. PMID: 11935339

4

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Grafakou O, et al. Among authors: smeets r. Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19. Eur J Pediatr. 2003. PMID: 12925875

5

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: smeets r. Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734. Ann Neurol. 2003. PMID: 14595656

6

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

7

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

8

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA. Triepels RH, et al. Among authors: smeets rj. Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6. Ann Neurol. 1999. PMID: 10360771

9

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA. Budde SM, et al. Among authors: smeets rj. Biochem Biophys Res Commun. 2000 Aug 18;275(1):63-8. doi: 10.1006/bbrc.2000.3257. Biochem Biophys Res Commun. 2000. PMID: 10944442

10

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

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