Ugalde C - Search Results

1

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. Hinttala R, et al. Among authors: ugalde c. J Med Genet. 2006 Nov;43(11):881-6. doi: 10.1136/jmg.2006.042168. Epub 2006 May 31. J Med Genet. 2006. PMID: 16738010 Free PMC article.

2

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA. Ugalde C, et al. Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996290

3

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

4

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. 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

5

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: ugalde c. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878. N Engl J Med. 2004. PMID: 15537906 Free article.

6

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. Fernandez-Moreira D, et al. Among authors: ugalde c. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

7

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C. Pello R, et al. Among authors: ugalde c. Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19. Hum Mol Genet. 2008. PMID: 18806273

8

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Ugalde C, Vogel R, Huijbens R, Van Den Heuvel B, Smeitink J, Nijtmans L. Ugalde C, et al. Hum Mol Genet. 2004 Oct 15;13(20):2461-72. doi: 10.1093/hmg/ddh262. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317750

9

Complex I assembly: a puzzling problem.

Vogel R, Nijtmans L, Ugalde C, van den Heuvel L, Smeitink J. Vogel R, et al. Among authors: ugalde c. Curr Opin Neurol. 2004 Apr;17(2):179-86. doi: 10.1097/00019052-200404000-00016. Curr Opin Neurol. 2004. PMID: 15021246

10

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency.

Smeitink JA, van den Heuvel LW, Koopman WJ, Nijtmans LG, Ugalde C, Willems PH. Smeitink JA, et al. Among authors: ugalde c. Curr Neurovasc Res. 2004 Jan;1(1):29-40. doi: 10.2174/1567202043480224. Curr Neurovasc Res. 2004. PMID: 16181064 Review.

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