Browsing publications by Professor Robert Taylor

Newcastle AuthorsTitleYearFull text
Dr Monika Olahova
Dr Steven Hardy
Dr John Yarham
William Wilson
Charlotte Alston
et al.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population2015
Joanna Rorbach
Charlotte Alston
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
et al.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Mariana Rocha
Dr John Grady
Dr Anne Grunewald
Amy Vincent
Dr Philip Dobson
et al.
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis2015
Dr Diana Lehmann
Karen Baty
Professor Robert Taylor
A novel m.7539C > T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease2015
Charlotte Alston
Dr Monika Olahova
Dr Langping He
Dr Bobby McFarland
Professor Robert Taylor
et al.
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency2015
Dr Monika Olahova
Charlotte Alston
Jess Houghton
Dr Langping He
Dr Andrew Morris
et al.
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency2015
Dr Francesco Bruni
Dr Bobby McFarland
Professor Robert Taylor
ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism2015
Dr Marilyn Clarke
Dr Vanessa Hogan
Dr Deborah Buck
Dr Jing Shen
Christine Powell
et al.
An external pilot study to test the feasibility of a randomised controlled trial comparing eye muscle surgery against active monitoring for childhood intermittent exotropia [X(T)]2015
Professor Robert Taylor
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy2015
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