N. Mackay

Complex II deficiency—A case report and review of the literature

S. Blaser, B. Robinson, J. Cameron, 2013, American journal of medical genetics. Part A.

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.

C. Ackerley, B. Robinson, J. Cameron, 2009, Molecular genetics and metabolism.

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

C. Ackerley, D. Chitayat, B. Robinson, 2011, Mitochondrion.

Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells.

A. Lang, B. Robinson, J. Cameron, 2010, Biochemical and biophysical research communications.

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.

C. Ackerley, B. Robinson, J. Cameron, 2008, The Biochemical journal.

Isolated and Combined Deficiencies of the α‐Keto Acid Dehydrogenase Complexes a

B. Robinson, R. Petrova-Benedict, G. Otulakowski, 1989 .

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

G. Mitchell, B. Robinson, R. Petrova-Benedict, 1993, American journal of human genetics.

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

E. Shoubridge, A. Janer, B. Robinson, 2011, American journal of human genetics.

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

C. Ackerley, S. Blaser, B. Robinson, 2013, Molecular genetics and metabolism.

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

M. Tarnopolsky, S. Blaser, B. Robinson, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.

B. Robinson, R. Petrova-Benedict, G. Otulakowski, 1989, Annals of the New York Academy of Sciences.