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Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Dr Yi Ng
Dr Nichola Lax
Dr Charlotte Alston
Philippa Hepplewhite
Professor Patrick Chinnery
et al.		MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load2018
Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al.		OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect2018
Dr Laura Greaves
Professor Robert Taylor
A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency2018
Dr Langping He
Professor Robert Taylor
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency2018
Dr Monika Olahova
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder2018
Dr Charlotte Alston
Lucie Taylor
Ruth Glasgow
Professor Bobby McFarland
Professor Robert Taylor
et al.		Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency2018
Dr Kyle Thompson
Professor Robert Taylor
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism2018
Dr Monika Olahova
Dr Charlotte Alston
Professor Robert Taylor
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function2018
Dr Francesco Bruni
Professor Bobby McFarland
Professor Zofia Chrzanowska-Lightowlers
Dr Langping He
Professor Robert Taylor
et al.		Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease2018
Dr Charlotte Alston
Professor Robert Taylor
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?2018
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