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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Dr Ewen Sommerville
Dr Yi Ng
Charlotte Alston
Dr Langping He
Charlotte Knowles
et al.
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy2017
Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
Dr Yi Ng
Professor Robert Taylor
Dr Andrew Schaefer
Diabetes Mellitus in Mitochondrial Disease2017
Professor Robert Taylor
Genetic diagnosis of Mendelian disorders via RNA sequencing2017
Professor Robert Taylor
MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase2017
Professor Robert Taylor
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy2017
Professor Robert Taylor
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA2017
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
Charlotte Alston
Professor Robert Taylor
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions2017
Dr Steven Hardy
Dr Emma Watson
Sila Hopton
Professor Robert Taylor
Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant2017
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