Browsing publications by Professor Robert Lightowlers

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
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
Professor Robert Lightowlers
Professor Robert Taylor
Professor Doug Turnbull
Mutations causing mitochondrial disease: What is new and what challenges remain?2015
Dr Joanna Elson
Dr Paul Smith
Dr Laura Greaves
Professor Robert Lightowlers
Professor Zofia Chrzanowska-Lightowlers
et al.
The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease2015
William Wilson
Dr Hue Hornig - Do
Dr Francesco Bruni
Professor Rick Lewis
Dr Loraine Hewitt
et al.
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression2014
Dr Hue Hornig - Do
Dr Arianna Montanari
Dr Agata Rozanska
Dr Helen Tuppen
Abdulraheem Almalki
et al.
Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations2014
Professor Robert Lightowlers
Dr Agata Rozanska
Professor Zofia Chrzanowska-Lightowlers
Mitochondrial protein synthesis: Figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation2014
Abdulraheem Almalki
Charlotte Alston
Dr Mojgan Reza
Professor Robert Lightowlers
Dr Bobby McFarland
et al.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency2014
Maria Wesolowska
Professor Robert Lightowlers
Professor Zofia Chrzanowska-Lightowlers
Overcoming stalled translation in human mitochondria2014
Professor Robert Lightowlers
Professor Zofia Chrzanowska-Lightowlers
Salvaging hope: Is increasing NAD+ a key to treating mitochondrial myopathy?2014
12345678910111213141516