Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Charlotte Alston
Professor Robert Taylor
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis2016
Padraig Flannery
Dr Florence Burte
Professor Robert Taylor
Professor Laurence Bindoff
Dr Patrick Yu Wai Man
et al.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation2016
Dr Langping He
Dr Matt Bates
Professor Robert Taylor
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure2016
Professor Robert Taylor
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria2016
Professor Robert Taylor
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts2016
Dr Bobby McFarland
Professor Robert Taylor
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients2016
Dr Monika Olahova
Dr Steven Hardy
Dr John Yarham
William Wilson
Charlotte Alston
et al.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population2015
Joanna Rorbach
Charlotte Alston
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
et al.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Mariana Rocha
Dr John Grady
Dr Anne Grunewald
Amy Vincent
Dr Philip Dobson
et al.
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis2015
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