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Full TextIssue DateTitleAuthor(s)
2009Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.Janssen, R.J.R.J.; Distelmaier, F.; Smeets, R.J.P.; Wijnhoven, T.J.M.; Ostergaard, E.; Jaspers, N.G.; Raams, A.; Kemp, S.; Rodenburg, R.J.T.; Willems, P.H.G.M.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J.
2008Biogenesis of mitochondrial complex I in health and diseaseJanssen, R.J.R.J.
2007Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.Vogel, R.O.; Janssen, R.J.R.J.; Brand, M.A.M. van den; Dieteren, C.E.J.; Verkaart, S.A.J.; Koopman, W.J.H.; Willems, P.H.G.M.; Pluk, W.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J.
2006Mitochondrial complex I: structure, function and pathology.Janssen, R.J.R.J.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
2005Human mitochondrial complex I assembly is mediated by NDUFAF1.Vogel, R.O.; Janssen, R.J.R.J.; Ugalde, C.; Grovenstein, M.; Huijbens, R.J.F.; Visch, H.J.; Heuvel, L.P.W.J. van den; Willems, P.H.G.M.; Zeviani, M.; Smeitink, J.A.M.; Nijtmans, L.G.J.
2004Genetic defects in the oxidative phosphorylation (OXPHOS) system.Janssen, R.J.R.J.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
2004The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.Janssen, R.J.R.J.; Wengen, A. van; Hoeve, M.A.; Dam, M. ten; Burg, M. van der; Dongen, J.J.M. van; Vosse, E. van de; Tol, M. van; Bredius, R.G.; Ottenhoff, T.H.M.; Weemaes, C.M.R.; Dissel, J.T. van; Lankester, A.W.
2004Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.Ugalde, C.; Janssen, R.J.R.J.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J.

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