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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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLGI) mutations von DE VRIES, Maaike C, RODENBURG, Richard J, SMEITINK, Jan A. M, MORAVA, Eva, VAN KAAUWEN, Edwin P. M, TER LAAK, Henk, MULLAART, Reinier A, SNOECK, Irina N, VAN HASSELT, Peter M, HARDING, Peter, VAN DEN HEUVEL, Lambert P. W

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