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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 12
2007 8
2008 4
2009 9
2010 9
2011 14
2012 17
2013 16
2014 13
2015 18
2016 21
2017 12
2018 17
2019 9
2020 7
2021 11
2022 5
2023 5
2024 4

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178 results

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Page 1
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V. Galosi S, et al. Among authors: rodenburg rj. Mov Disord. 2024 Apr 30. doi: 10.1002/mds.29795. Online ahead of print. Mov Disord. 2024. PMID: 38685873
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: rodenburg rj. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution.
van Strien J, Evers F, Lutikurti M, Berendsen SL, Garanto A, van Gemert GJ, Cabrera-Orefice A, Rodenburg RJ, Brandt U, Kooij TWA, Huynen MA. van Strien J, et al. Among authors: rodenburg rj. PLoS Comput Biol. 2023 Aug 7;19(8):e1011090. doi: 10.1371/journal.pcbi.1011090. eCollection 2023 Aug. PLoS Comput Biol. 2023. PMID: 37549177 Free PMC article.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP, Adjobo-Hermans MJW, de Potter B, Hoogstraten S, Wezendonk LHT, Tutakhel OAZ, Wintjes LT, van den Heuvel B, Willems PHGM, Kamsteeg EJ, Gozalbo MER, Sallevelt SCEH, Koudijs SM, Nicolai J, de Bie CI, Hoogendijk JE, Koopman WJH, Rodenburg RJ. Bulthuis EP, et al. Among authors: rodenburg rj. Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166808. doi: 10.1016/j.bbadis.2023.166808. Epub 2023 Jul 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37454773 Free article.
Prolonged Moderate-Intensity Exercise Does Not Increase Muscle Injury Markers in Symptomatic or Asymptomatic Statin Users.
Allard NAE, Janssen L, Lagerwaard B, Nuijten MAH, Bongers CCWG, Rodenburg RJ, Thompson PD, Eijsvogels TMH, Assendelft WJJ, Schirris TJJ, Timmers S, Hopman MTE. Allard NAE, et al. Among authors: rodenburg rj. J Am Coll Cardiol. 2023 Apr 11;81(14):1353-1364. doi: 10.1016/j.jacc.2023.01.043. J Am Coll Cardiol. 2023. PMID: 37019582 Free article.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM. Ferreira EA, et al. Among authors: rodenburg rj. Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9. Genet Med. 2023. PMID: 36350326 Free article.
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.
Bulthuis EP, Einer C, Distelmaier F, Groh L, van Emst-de Vries SE, van de Westerlo E, van de Wal M, Wagenaars J, Rodenburg RJ, Smeitink JAM, Riksen NP, Willems PHGM, Adjobo-Hermans MJW, Zischka H, Koopman WJH. Bulthuis EP, et al. Among authors: rodenburg rj. Free Radic Biol Med. 2022 Aug 1;188:434-446. doi: 10.1016/j.freeradbiomed.2022.06.011. Epub 2022 Jun 17. Free Radic Biol Med. 2022. PMID: 35718301 Free article.
178 results