Rodenburg RJ - Search Results

1

A guide to diagnosis and treatment of Leigh syndrome.

Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. Among authors: rodenburg rj. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.

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

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: rodenburg rj. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

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: 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

6

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Janssen AJ, et al. Among authors: rodenburg rj. Clin Chem. 2006 May;52(5):860-71. doi: 10.1373/clinchem.2005.062414. Epub 2006 Mar 16. Clin Chem. 2006. PMID: 16543390 Free article.

7

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.

8

Females with PDHA1 gene mutations: a diagnostic challenge.

Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Willemsen M, et al. Among authors: rodenburg rj. Mitochondrion. 2006 Jun;6(3):155-9. doi: 10.1016/j.mito.2006.03.001. Epub 2006 May 19. Mitochondrion. 2006. PMID: 16713755

9

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

10

Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system.

Pillen S, Morava E, Van Keimpema M, Ter Laak HJ, De Vries MC, Rodenburg RJ, Zwarts MJ. Pillen S, et al. Among authors: rodenburg rj. Neuropediatrics. 2006 Jun;37(3):142-7. doi: 10.1055/s-2006-924512. Neuropediatrics. 2006. PMID: 16967365 Free article.

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