NDUFA2 Complex I Mutation Leads to Leigh Disease von Hoefs, Saskia J.G., Dieteren, Cindy E.J., Distelmaier, Felix, Janssen, Rolf J.R.J., Epplen, Andrea, Swarts, Herman G.P., Forkink, Marleen, Rodenburg, Richard J., Nijtmans, Leo G., Willems, Peter H., Smeitink, Jan A.M., van den Heuvel, Lambert P.

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Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency von Hoefs, Saskia J.G, Dieteren, Cindy E.J, Rodenburg, Richard J, Naess, Karin, Bruhn, Helene, Wibom, Rolf, Wagena, Esther, Willems, Peter H, Smeitink, Jan A.M, Nijtmans, Leo G, van den Heuvel, Lambert P

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Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies von Hoefs, Saskia J.G., Skjeldal, Ola H., Rodenburg, Richard J., Nedregaard, Bård, van Kaauwen, Edwin P.M., Spiekerkötter, Ute, von Kleist-Retzow, Jürgen-Christoph, Smeitink, Jan A.M., Nijtmans, Leo G., van den Heuvel, Lambert P.

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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease von Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P

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Molecular base of biochemical complex I deficiency von Hoefs, Saskia J G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P

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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease von Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.

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