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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1992 2
1993 3
1995 1
1996 1
1997 1
1998 2
1999 1
2000 2
2001 1
2003 1
2004 4
2005 10
2006 21
2007 16
2008 11
2009 16
2010 15
2011 18
2012 26
2013 22
2014 15
2015 20
2016 27
2017 25
2018 27
2019 21
2020 19
2021 17
2022 10
2023 11
2024 5

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306 results

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Page 1
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. Among authors: rodenburg rj. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
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.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: rodenburg rjt. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. Among authors: rodenburg rj. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Zech M, et al. Among authors: rodenburg rjt. Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20. Ann Neurol. 2022. PMID: 34954817 Free PMC article.
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.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: rodenburg rj. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Biochemical diagnosis of mitochondrial disorders.
Rodenburg RJ. Rodenburg RJ. J Inherit Metab Dis. 2011 Apr;34(2):283-92. doi: 10.1007/s10545-010-9081-y. Epub 2010 May 4. J Inherit Metab Dis. 2011. PMID: 20440652 Free PMC article. Review.
306 results