A. Duncan

发表

Predictive semiology of psychogenic non-epileptic seizures in an epilepsy monitoring unit

R. Boston, A. Duncan, Ivana Perić, 2021, Journal of Neurology.

The Effect of HMG-CoA Reductase Inhibitors on Coenzyme Q10

S. Heales, A. Duncan, I. Hargreaves, 2005, Drug safety.

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

A. Duncan, J. Achermann, J. Suntharalingham, 2015, Best practice & research. Clinical endocrinology & metabolism.

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency

M. Dattani, D. Gerrelli, G. Conway, 2012, Molecular and Cellular Endocrinology.

Prevalence of mitochondrial 1555A-->G mutation in European children.

S. Ring, M. Pembrey, M. Bitner-Glindzicz, 2009, The New England journal of medicine.

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2012, BMJ Open.

Hearing in 44 e 45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2022 .

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

A. Singleton, J. Hardy, M. Bitner-Glindzicz, 2009, American journal of human genetics.

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2006, Molecular genetics and metabolism.

Decreased Ubiquinone Availability and Impaired Mitochondrial Cytochrome Oxidase Activity Associated With Statin Treatment

S. Heales, A. Duncan, I. Hargreaves, 2009, Toxicology mechanisms and methods.

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit

L. Dunkel, L. Guasti, H. Storr, 2017, The Journal of clinical endocrinology and metabolism.

1 ! 2 ! KISSPEPTIN IS A NOVEL REGULATOR OF HUMAN FETAL ADRENOCORTICAL 3 ! DEVELOPMENT AND FUNCTION – A FINDING WITH IMPORTANT IMPLICATIONS FOR 4 ! THE HUMAN FETO-PLACENTAL UNIT 5 ! 6 !

L. Dunkel, L. Guasti, W. Dhillo, 2017 .

Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

K. Mills, S. Heales, S. Eaton, 2005, Clinical chemistry.

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2015, Human molecular genetics.

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Robert W. Taylor, A. Pagnamenta, M. Bitner-Glindzicz, 2006, Human reproduction.

DAX-1 ( NR 0 B 1 ) and steroidogenic factor-1 ( SF1 , NR 5 A 1 ) in human disease

A. Duncan, J. Achermann, J. Suntharalingham, 2015 .

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2010, Human molecular genetics.

Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies.

S. Heales, A. Duncan, I. Hargreaves, 2007, Mitochondrion.

Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features

I. Harting, T. Bast, S. Rahman, 2009, Epilepsia.

Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent

J. Heron, S. Rahman, A. Duncan, 2009 .

Nitric oxide and neurological disorders.

Andrew J Duncan, S. Heales, A. Duncan, 2005, Molecular aspects of medicine.

A genomic atlas of human adrenal and gonad development

Lin Lin, Dianne Gerrelli, Martino Barenco, 2017, Wellcome open research.

POLG mutations and age at menopause.

S. Rahman, G. Conway, A. Duncan, 2012, Human reproduction.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

P. Validire, A. Rajkovic, E. Rajpert-De Meyts, 2018, Human molecular genetics.

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Philip Stanier, Sayeda Abu-Amero, David Monk, 2012, American journal of human genetics.

Neurodegeneration or Neuroprotection: The Pivotal Role of Astrocytes

S. Heales, A. Duncan, J. Land, 2004, Neurochemical Research.

The role and interaction of imprinted genes in human fetal growth

K. Nicolaides, J. Whittaker, S. Apostolidou, 2015, Philosophical Transactions of the Royal Society B: Biological Sciences.

A novel homozygous deletion in NDUFS4 causes complex I deficient Leigh syndrome

James V. Leonard, Shamima Rahman, E. Fassone, 2011 .

Some Observations upon Biochemical Causes of Ataxia and a New Disease Entity Ubiquinone, CoQ10 Deficiency

S. Heales, A. Duncan, I. Hargreaves, 2007, Neurochemical Research.