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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: rodenburg r. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
Dietary intervention and oxidative phosphorylation capacity.
Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Morava E, et al. Among authors: rodenburg r. J Inherit Metab Dis. 2006 Aug;29(4):589. doi: 10.1007/s10545-006-0227-x. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786255
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. Among authors: rodenburg r. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
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
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
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: rodenburg r. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.
312 results