Janssen RJ - Search Results

1

Genetic defects in the oxidative phosphorylation (OXPHOS) system.

Janssen RJ, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. Expert Rev Mol Diagn. 2004 Mar;4(2):143-56. doi: 10.1586/14737159.4.2.143. Expert Rev Mol Diagn. 2004. PMID: 14995902 Review.

2

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG. Ugalde C, et al. Among authors: janssen rj. Hum Mol Genet. 2004 Mar 15;13(6):659-67. doi: 10.1093/hmg/ddh071. Epub 2004 Jan 28. Hum Mol Genet. 2004. PMID: 14749350

3

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Vogel RO, Janssen RJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch HJ, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: janssen rj. FEBS J. 2005 Oct;272(20):5317-26. doi: 10.1111/j.1742-4658.2005.04928.x. FEBS J. 2005. PMID: 16218961 Free article.

4

Mitochondrial complex I: structure, function and pathology.

Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Janssen RJ, et al. J Inherit Metab Dis. 2006 Aug;29(4):499-515. doi: 10.1007/s10545-006-0362-4. Epub 2006 Jul 11. J Inherit Metab Dis. 2006. PMID: 16838076 Review.

5

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG. Vogel RO, et al. Among authors: janssen rj. Genes Dev. 2007 Mar 1;21(5):615-24. doi: 10.1101/gad.408407. Genes Dev. 2007. PMID: 17344420 Free PMC article.

6

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: janssen rj. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.

7

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Janssen RJ, Distelmaier F, Smeets R, Wijnhoven T, Østergaard E, Jaspers NG, Raams A, Kemp S, Rodenburg RJ, Willems PH, van den Heuvel LP, Smeitink JA, Nijtmans LG. Janssen RJ, et al. Hum Mol Genet. 2009 Sep 15;18(18):3365-74. doi: 10.1093/hmg/ddp276. Epub 2009 Jun 12. Hum Mol Genet. 2009. PMID: 19525295

8

Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association.

van Eenennaam H, van der Heijden A, Janssen RJ, van Venrooij WJ, Pruijn GJ. van Eenennaam H, et al. Among authors: janssen rj. Mol Biol Cell. 2001 Nov;12(11):3680-9. doi: 10.1091/mbc.12.11.3680. Mol Biol Cell. 2001. PMID: 11694598 Free PMC article.

9

Force-velocity profiling of elite wheelchair rugby players by manipulating rolling resistance over multiple wheelchair sprints.

Janssen RJF, de Groot S, Van der Woude LHV, Houdijk H, Goosey-Tolfrey VL, Vegter RJK. Janssen RJF, et al. Scand J Med Sci Sports. 2023 Aug;33(8):1531-1540. doi: 10.1111/sms.14384. Epub 2023 May 14. Scand J Med Sci Sports. 2023. PMID: 37183537

10

Impact of the COVID-19 pandemic on surgical care in the Netherlands.

de Graaff MR, Hogenbirk RNM, Janssen YF, Elfrink AKE, Liem RSL, Nienhuijs SW, de Vries JPM, Elshof JW, Verdaasdonk E, Melenhorst J, van Westreenen HL, Besselink MGH, Ruurda JP, van Berge Henegouwen MI, Klaase JM, den Dulk M, van Heijl M, Hegeman JH, Braun J, Voeten DM, Würdemann FS, Warps AK, Alberga AJ, Suurmeijer JA, Akpinar EO, Wolfhagen N, van den Boom AL, Bolster-van Eenennaam MJ, van Duijvendijk P, Heineman DJ, Wouters MWJM, Kruijff S; Dutch CovidSurg Collaborative Study Group. de Graaff MR, et al. Br J Surg. 2022 Nov 22;109(12):1282-1292. doi: 10.1093/bjs/znac301. Br J Surg. 2022. PMID: 36811624 Free PMC article.

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