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Browsing publications by Professor Bobby McFarland

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 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 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
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
Dr John Grady
Dr Sarah Pickett
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
et al.
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease2018
Dr Cecilia Jimenez Moreno
Professor Bobby McFarland
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions2018
Dr Sarah Pickett
Dr John Grady
Dr Yi Ng
Dr Grainne Gorman
Dr Andrew Schaefer
et al.
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors2018
Professor Robert Taylor
Professor Bobby McFarland
Dr Grainne Gorman
Dr Ewen Sommerville
Professor Patrick Chinnery
et al.
Retrospective natural history of thymidine kinase 2 deficiency2018
Dr Julie Murphy
Professor Doug Turnbull
Professor Robert Taylor
Dr Grainne Gorman
Professor Bobby McFarland
et al.
Scientific and Ethical Issues in Mitochondrial Donation2018
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