Neviana MacKay

A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

Agnieszka Seyda, Robert F. Newbold, Thomas J. Hudson et al. · The American Journal of Human Genetics · 2001 · 72 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +7

Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation

Mary C. Maj, Neviana MacKay, Valeriy Levandovskiy et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 64 citations · Full text

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity

Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay et al. · American Journal of Medical Genetics Part A · 2006 · 57 citations

Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

Kathy Chun, Neviana MacKay, Roumyana Petrova-Benedict et al. · Human Molecular Genetics · 1993 · 54 citations

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E₁α subunit

Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay et al. · American Journal of Medical Genetics Part A · 2004 · 44 citations