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

Year Number of Results
2003 1
2004 2
2005 4
2006 8
2007 4
2008 2
2009 4
2010 4
2011 8
2012 7
2013 6
2014 4
2015 3
2016 2
2017 3
2018 1
2019 5
2020 3
2021 3
2022 1
2023 2
2024 0

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60 results

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Page 1
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.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Conte F, Ashikov A, Mijdam R, van de Ven EGP, van Scherpenzeel M, Veizaj R, Mahalleh-Yousefi SP, Post MA, Huijben K, Panneman DM, Rodenburg RJT, Voermans NC, Garanto A, Koopman WJH, Wessels HJCT, Noga MJ, Lefeber DJ. Conte F, et al. Among authors: rodenburg rjt. Int J Mol Sci. 2023 May 4;24(9):8247. doi: 10.3390/ijms24098247. Int J Mol Sci. 2023. PMID: 37175952 Free PMC article.
Exome sequencing in paediatric patients with movement disorders.
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Among authors: rodenburg rjt. Orphanet J Rare Dis. 2021 Jan 15;16(1):32. doi: 10.1186/s13023-021-01688-6. Orphanet J Rare Dis. 2021. PMID: 33446253 Free PMC article.
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.
Inheritance of the m.3243A>G mutation.
de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. Among authors: rodenburg rj. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430519 Free PMC article.
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ. Jakobs BS, et al. Among authors: rodenburg rj. J Neurol Sci. 2013 Mar 15;326(1-2):24-8. doi: 10.1016/j.jns.2013.01.004. Epub 2013 Jan 21. J Neurol Sci. 2013. PMID: 23343605 Review.
Three families with 'de novo' m.3243A > G mutation.
de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA. de Laat P, et al. Among authors: rodenburg rj. BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec. BBA Clin. 2016. PMID: 27331024 Free PMC article.
A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Kwong AK, Chiu AT, Tsang MH, Lun KS, Rodenburg RJT, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Among authors: rodenburg rjt. JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240163 Free PMC article.
60 results