Rodenburg RJ - Search Results

1

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: rodenburg rj. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

2

Mitochondrial dysfunction in a patient with Joubert syndrome.

Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Morava E, et al. Among authors: rodenburg rj. Neuropediatrics. 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. Neuropediatrics. 2005. PMID: 15944909

3

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects.

van den Heuvel LP, Smeitink JA, Rodenburg RJ. van den Heuvel LP, et al. Among authors: rodenburg rj. Mitochondrion. 2004 Sep;4(5-6):395-401. doi: 10.1016/j.mito.2004.07.005. Mitochondrion. 2004. PMID: 16120401

4

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: rodenburg rj. 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

5

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Schwab MA, Sauer SW, Okun JG, Nijtmans LG, Rodenburg RJ, van den Heuvel LP, Dröse S, Brandt U, Hoffmann GF, Ter Laak H, Kölker S, Smeitink JA. Schwab MA, et al. Among authors: rodenburg rj. Biochem J. 2006 Aug 15;398(1):107-12. doi: 10.1042/BJ20060221. Biochem J. 2006. PMID: 16686602 Free PMC article.

6

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. de Vries MC, et al. Among authors: rodenburg rj. Eur J Pediatr. 2007 Mar;166(3):229-34. doi: 10.1007/s00431-006-0234-9. Epub 2006 Sep 7. Eur J Pediatr. 2007. PMID: 16957900

7

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. Among authors: rodenburg rj. 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

8

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Smeitink JA, et al. Among authors: rodenburg rj. Am J Hum Genet. 2006 Nov;79(5):869-77. doi: 10.1086/508434. Epub 2006 Sep 15. Am J Hum Genet. 2006. PMID: 17033963 Free PMC article.

9

The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA. Ruiter EM, et al. Among authors: rodenburg rj. Eur J Hum Genet. 2007 Feb;15(2):155-61. doi: 10.1038/sj.ejhg.5201735. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106447

10

Mitochondrial disease criteria: diagnostic applications in children.

Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Morava E, et al. Among authors: rodenburg rj. Neurology. 2006 Nov 28;67(10):1823-6. doi: 10.1212/01.wnl.0000244435.27645.54. Neurology. 2006. PMID: 17130416

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