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309 results

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Page 1
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
DTYMK is essential for genome integrity and neuronal survival.
Vanoevelen JM, Bierau J, Grashorn JC, Lambrichs E, Kamsteeg EJ, Bok LA, Wevers RA, van der Knaap MS, Bugiani M, Frisk JH, Colnaghi R, O'Driscoll M, Hellebrekers DMEI, Rodenburg R, Ferreira CR, Brunner HG, van den Wijngaard A, Abdel-Salam GMH, Wang L, Stumpel CTRM. Vanoevelen JM, et al. Among authors: rodenburg r. Acta Neuropathol. 2022 Feb;143(2):245-262. doi: 10.1007/s00401-021-02394-0. Epub 2021 Dec 17. Acta Neuropathol. 2022. PMID: 34918187 Free PMC article.
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.
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Wong TS, Belaramani KM, Chan CK, Chan WK, Chan WL, Chang SK, Cheung SN, Cheung KY, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Lee WC, Lee HH, Lee CN, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui HT, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Ng SF, Poon WG, Rodenburg R, Sheng B, Smeitink J, Szeto CC, Tai SM, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Young PT, Yuan G, Yuen YL, Yuen CL, Fung CW. Wong TS, et al. Among authors: rodenburg r. Orphanet J Rare Dis. 2023 Mar 2;18(1):43. doi: 10.1186/s13023-023-02632-6. Orphanet J Rare Dis. 2023. PMID: 36859275 Free PMC article.
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
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Among authors: rodenburg r. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Nouws J, et al. Among authors: rodenburg r. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. Cell Metab. 2010. PMID: 20816094 Free article.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group; Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group; Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN. Ashikov A, et al. Among authors: rodenburg r. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213. Hum Mol Genet. 2018. PMID: 29878199
309 results