Denise M. Kirby

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 776 citations

Down Syndrome, Complex Iv-deficient Sibships, Genetic Testing +13

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 359 citations · Full text

Identifies Mutations, Human Complex, Sequencing +11

Respiratory chain complex I deficiency

Denise M. Kirby, Megan Crawford, Maureen Cleary et al. · Neurology · 1999 · 264 citations

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

Christopher J.R. Dunning, Matthew McKenzie, Canny Sugiana et al. · The EMBO Journal · 2007 · 190 citations · Full text

Mitochondrial Function, Natural Sciences, Genetics +8

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Denise M. Kirby, Renato Salemi, Canny Sugiana et al. · Journal of Clinical Investigation · 2004 · 186 citations · Full text