Van Den Heuvel L - Search Results

1

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Morava E, et al. Among authors: van den heuvel l. Eur J Pediatr. 2004 Aug;163(8):467-71. doi: 10.1007/s00431-004-1465-2. Epub 2004 May 27. Eur J Pediatr. 2004. PMID: 15168109

2

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: van den heuvel l. 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

3

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Wortmann SB, et al. Among authors: van den heuvel l. Eur J Med Genet. 2012 Oct;55(10):552-6. doi: 10.1016/j.ejmg.2012.06.002. Epub 2012 Jul 7. Eur J Med Genet. 2012. PMID: 22781753

4

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Morava E, et al. Among authors: van den heuvel l. Am J Med Genet A. 2006 Apr 1;140(7):752-6. doi: 10.1002/ajmg.a.31117. Am J Med Genet A. 2006. PMID: 16477654

5

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Among authors: van den heuvel l. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470

6

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies.

Smits P, Smeitink J, van den Heuvel L. Smits P, et al. Among authors: van den heuvel l. J Biomed Biotechnol. 2010;2010:737385. doi: 10.1155/2010/737385. Epub 2010 Apr 13. J Biomed Biotechnol. 2010. PMID: 20396601 Free PMC article. Review.

7

The genetics and pathology of oxidative phosphorylation.

Smeitink J, van den Heuvel L, DiMauro S. Smeitink J, et al. Among authors: van den heuvel l. Nat Rev Genet. 2001 May;2(5):342-52. doi: 10.1038/35072063. Nat Rev Genet. 2001. PMID: 11331900 Review.

8

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.

van den Heuvel L, Smeitink J. van den Heuvel L, et al. Bioessays. 2001 Jun;23(6):518-25. doi: 10.1002/bies.1071. Bioessays. 2001. PMID: 11385631 Review.

9

Human NADH:ubiquinone oxidoreductase.

Smeitink J, Sengers R, Trijbels F, van den Heuvel L. Smeitink J, et al. Among authors: van den heuvel l. J Bioenerg Biomembr. 2001 Jun;33(3):259-66. doi: 10.1023/a:1010743321800. J Bioenerg Biomembr. 2001. PMID: 11695836

10

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Niers L, van den Heuvel L, Trijbels F, Sengers R, Smeitink J; Nijmegen Centre for Mitochondrial Disorders, The Netherlands. Niers L, et al. Among authors: van den heuvel l. J Inherit Metab Dis. 2003;26(7):647-58. doi: 10.1023/b:boli.0000005605.57420.b4. J Inherit Metab Dis. 2003. PMID: 14707513 Review.

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