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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 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 Kyle Thompson
Professor Robert Taylor
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism2018
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 features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency2018
Christie Waddington
Ewen Sommerville
Sila Hopton
Dr Angela Pyle
Professor Zofia Chrzanowska-Lightowlers
et al.		Defective mitochondrial protease LonP1 can cause classical mitochondrial disease2018
Dr Mariana Rocha
Dr Steven Hardy
Dr Amy Vincent
Professor Robert Taylor
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant2018
Professor Robert Taylor
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases2018
Dr Charlotte Alston
Dr Ki Pang
Professor Bobby McFarland
Professor Robert Taylor
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion2018
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