Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Professor Robert Taylor
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy2017
Dr Monika Olahova
Dr Kyle Thompson
Dr Steven Hardy
Maria-Eleni Anagnostou
Dr Kathryn White
et al.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria2017
Dr Emma Watson
Dr Langping He
Professor Robert Taylor
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism2017
Charlotte Alston
Dr Mariana Rocha
Dr Nichola Lax
Professor Doug Turnbull
Professor Robert Taylor
et al.
The genetics and pathology of mitochondrial disease2017
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
Professor Robert Taylor
Professor Doug Turnbull
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency2016
Dr Yi Ng
Steven Hardy
Professor Robert Taylor
Clinical features of the pathogenic m.5540G > A mitochondrial transfer RNA tryptophan gene mutation2016
Mika Martikainen
Dr Yi Ng
Dr Grainne Gorman
Charlotte Alston
Dr Andrew Schaefer
et al.
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease2016
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