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
Charlotte Alston
Dr Monika Olahova
Dr Steven Hardy
Dr Langping He
Professor Robert Taylor
et al.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype2016
Charlotte Alston
Dr Monika Olahova
Dr John Yarham
Dr Langping He
Professor Robert Taylor
et al.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype2016
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
Professor Robert Taylor
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB112016
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
Dr Ian Wilson
Pip Carling
Charlotte Alston
Vasileios Floros
Dr Angela Pyle
et al.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck2016
Professor Robert Taylor
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria2016
Dr Steven Hardy
Dr Andrew Purvis
Dr Mariana Rocha
Syeda Ahmed
Gavin Falkous
et al.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy2016
Dr Kyle Thompson
Charlotte Alston
Dr Langping He
Dr Angela Pyle
Dr Helen Griffin
et al.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies2016
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