Jan Smeitink

Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink et al. · Annals of Neurology · 2001 · 192 citations

Genetics, Pathology, Molecular Biology +17

<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 192 citations

Urology, Somatic Variant, Aldehyde Dehydrogenase +15

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 157 citations · Full text

Engineering, Mitochondrial Dysfunction, Genetics +22

Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst et al. · The American Journal of Human Genetics · 1997 · 141 citations · Full text

Molecular Defect, Genetics, Molecular Biology +2

Human NADH:Ubiquinone Oxidoreductase

Jan Smeitink, R. C. A. Sengers, Frans J.M. Trijbels et al. · Journal of Bioenergetics and Biomembranes · 2001 · 118 citations