Saskia J G Hoefs

发表

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

R. Rodenburg, J. Smeitink, L. Nijtmans, 2011, European Journal of Human Genetics.

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Rutger O. Vogel, M. Huynen, H. Venselaar, 2009, American journal of human genetics.

Identification of a SOX2-dependent subset of tumor- and sphere-forming glioblastoma cells with a distinct tyrosine kinase inhibitor sensitivity profile

M. Nistér, A. Östman, G. Hesselager, 2011, Neuro-oncology.

Molecular base of biochemical complex I deficiency.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2012, Mitochondrion.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2010, Molecular genetics and metabolism.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.

NDUFA2 complex I mutation leads to Leigh disease.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2008, American journal of human genetics.

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2009, Human mutation.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.