David R. Thorburn

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang et al. · Cell · 2008 · 2K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

Life Sciences, Genetics, Molecular Genetics +17

Accessory subunits are integral for assembly and function of human mitochondrial complex I

David A. Stroud, Elliot Surgenor, Luke E. Formosa et al. · Nature · 2016 · 662 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett et al. · Neurology · 2002 · 572 citations

Medicine, Child Health, Pediatrics +8

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

Life Sciences, Genetics, Molecular Genetics +15