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

Year Number of Results
1992 2
1993 3
1995 1
1996 1
1997 1
1998 2
1999 1
2000 2
2001 1
2003 1
2004 4
2005 7
2006 16
2007 11
2008 11
2009 12
2010 11
2011 16
2012 24
2013 20
2014 13
2015 18
2016 24
2017 22
2018 22
2019 16
2020 10
2021 14
2022 6
2023 7
2024 2

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245 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.
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.
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.
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.
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.
Mitochondrial ATP synthase: architecture, function and pathology.
Jonckheere AI, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: rodenburg rj. J Inherit Metab Dis. 2012 Mar;35(2):211-25. doi: 10.1007/s10545-011-9382-9. Epub 2011 Aug 27. J Inherit Metab Dis. 2012. PMID: 21874297 Free PMC article. Review.
245 results