Publications

Recent publications

  1. Mitochondrial complex I-linked disease. Rodenburg RJ. Biochim Biophys Acta. 2016 Feb 22. pii: S0005-2728(16)30031-7. doi: 10.1016/j.bbabio.2016.02.012. [Epub ahead of print] PubMed PMID: 26906428.

  2. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy. McCann BJ, Tuppen HA, Küsters B, Lammens M, Smeitink JA, Taylor RW, Rodenburg  RJ, Wortmann SB. Neuromuscul Disord. 2015 Mar;25(3):262-7.

  3. Whole exome sequencing of suspected mitochondrial patients in clinical practice.Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. J Inherit Metab Dis. 2015 Mar 4. [Epub ahead of print] PubMed PMID: 25735936. 

  4. SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. Renkema GH, Wortmann SB, Smeets RJ,Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ,Smeitink JA, Rodenburg RJ. Eur J Hum Genet. 2015 Feb;23(2):202-9.

  5. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic
    cardiomyopathy. Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Hum Mutat. 2015 Jan;36(1):34-8.

  6. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ. Brain. 2013 May;136(Pt 5):1544-54

  7. Mitochondrial ATP synthase: architecture, function and pathology. Jonckheere AI, Smeitink JA, Rodenburg RJ. J Inherit Metab Dis. 2012 Mar;35(2):211-25

  8. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ. Am J Hum Genet. 2011 Apr 8;88(4):488-93

  9. Biochemical diagnosis of mitochondrial disorders. Rodenburg RJ. J Inherit Metab Dis. 2011 Apr;34(2):283-92

  10. Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Janssen AJ, Trijbels FJ, Sengers RC, Smeitink JA, van den Heuvel LP, Wintjes LT, Stoltenborg-Hogenkamp BJ, Rodenburg RJ. Clin Chem. 2007 Apr;53(4):729-34

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