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Page 1
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K. Joost K, et al. Among authors: van den heuvel l. Mol Syndromol. 2012 Sep;3(3):113-119. doi: 10.1159/000341375. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112753 Free PMC article.
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: van den heuvel l. Neurology. 2006 Nov 28;67(10):1823-6. doi: 10.1212/01.wnl.0000244435.27645.54. Neurology. 2006. PMID: 17130416
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: van den heuvel l. Mitochondrion. 2006 Jun;6(3):155-9. doi: 10.1016/j.mito.2006.03.001. Epub 2006 May 19. Mitochondrion. 2006. PMID: 16713755
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. Wanschers BF, et al. Among authors: van den brand ma, van den heuvel l. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Wortmann SB, et al. Among authors: van den heuvel l. Eur J Med Genet. 2012 Oct;55(10):552-6. doi: 10.1016/j.ejmg.2012.06.002. Epub 2012 Jul 7. Eur J Med Genet. 2012. PMID: 22781753
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: van spronsen fj, van den heuvel l. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
649 results