Rodenburg R - Search Results

1

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D. Barøy T, et al. Among authors: rodenburg r. Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13. Eur J Med Genet. 2016. PMID: 27182039

2

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Morava E, et al. Among authors: rodenburg r. Am J Med Genet A. 2006 Apr 1;140(7):752-6. doi: 10.1002/ajmg.a.31117. Am J Med Genet A. 2006. PMID: 16477654

3

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Smits P, et al. Among authors: rodenburg r. Eur J Hum Genet. 2010 Mar;18(3):324-9. doi: 10.1038/ejhg.2009.169. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809478 Free PMC article.

4

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D. Chinopoulos C, et al. Among authors: rodenburg r. Mol Genet Metab. 2019 Jan;126(1):43-52. doi: 10.1016/j.ymgme.2018.11.009. Epub 2018 Nov 16. Mol Genet Metab. 2019. PMID: 30470562

5

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

de Laat P, Rodenburg RR, Roeleveld N, Koene S, Smeitink JA, Janssen MC. de Laat P, et al. Among authors: rodenburg rr. J Med Genet. 2021 Jan;58(1):48-55. doi: 10.1136/jmedgenet-2019-106800. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439810

6

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J. Morava E, et al. Among authors: rodenburg r. Am J Med Genet A. 2006 Oct 15;140(20):2248-50. doi: 10.1002/ajmg.a.31452. Am J Med Genet A. 2006. PMID: 16969869 No abstract available.

7

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome.

Smits B, van den Heuvel L, Knoop H, Küsters B, Janssen A, Borm G, Bleijenberg G, Rodenburg R, van Engelen B. Smits B, et al. Among authors: rodenburg r. Mitochondrion. 2011 Sep;11(5):735-8. doi: 10.1016/j.mito.2011.05.005. Epub 2011 Jun 2. Mitochondrion. 2011. PMID: 21664495

8

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R. Jonckheere AI, et al. Among authors: rodenburg r. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686774 Free PMC article.

9

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. van de Glind G, et al. Among authors: rodenburg r. Eur J Paediatr Neurol. 2007 Jul;11(4):243-6. doi: 10.1016/j.ejpn.2007.01.004. Epub 2007 Feb 12. Eur J Paediatr Neurol. 2007. PMID: 17293137

10

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.

Morava E, Bongers EMHF, Kress W, Sie L, Rodenburg R, Heuvel LVD, Brunner HG. Morava E, et al. Among authors: rodenburg r. Clin Dysmorphol. 2007 Apr;16(2):131-134. doi: 10.1097/MCD.0b013e328014715e. Clin Dysmorphol. 2007. PMID: 17351361 No abstract available.

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