van den Heuvel LP - Search Results

1

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: van den heuvel lp. Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734. Ann Neurol. 2003. PMID: 14595656

2

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: van den heuvel lp. Hum Mol Genet. 2004 Mar 15;13(6):659-67. doi: 10.1093/hmg/ddh071. Epub 2004 Jan 28. Hum Mol Genet. 2004. PMID: 14749350

3

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Coenen MJ, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LG, Trijbels FJ, Beblo S, Maier EM, Muntau AC, Smeitink JA. Coenen MJ, et al. Among authors: van den heuvel lp. Ann Neurol. 2004 Oct;56(4):560-4. doi: 10.1002/ana.20229. Ann Neurol. 2004. PMID: 15455402

4

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.

Coenen MJ, Smeitink JA, Pots JM, van Kaauwen E, Trijbels FJ, Hol FA, van den Heuvel LP. Coenen MJ, et al. Among authors: van den heuvel lp, van kaauwen e. J Child Neurol. 2006 Jun;21(6):508-11. doi: 10.1177/08830738060210062501. J Child Neurol. 2006. PMID: 16948936

5

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: van den heuvel lp. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.

6

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: van spronsen fj, van den heuvel lp. Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150889 Free PMC article.

7

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, Ruitenbeek W, Trijbels FJ, Valsson J, Sigfusson G, Palmieri F, Smeitink JA. Jordens EZ, et al. Among authors: van den heuvel lp. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053

8

Genetic defects in the oxidative phosphorylation (OXPHOS) system.

Janssen RJ, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. Among authors: van den heuvel lp. Expert Rev Mol Diagn. 2004 Mar;4(2):143-56. doi: 10.1586/14737159.4.2.143. Expert Rev Mol Diagn. 2004. PMID: 14995902 Review.

9

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Coenen MJ, et al. Among authors: van den heuvel lp. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878. N Engl J Med. 2004. PMID: 15537906 Free article.

10

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

Ugalde C, Coenen MJ, Farhoud MH, Gilinsky S, Koopman WJ, van den Heuvel LP, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: van den heuvel lp. Mitochondrion. 2002 Nov;2(1-2):117-28. doi: 10.1016/s1567-7249(02)00012-0. Mitochondrion. 2002. PMID: 16120314

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