Browsing publications by Charlotte Alston

Newcastle AuthorsTitleYearFull text
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
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 Grainne Gorman
Dr Andrew Schaefer
Dr Yi Ng
Charlotte Alston
Catherine Feeney
et al.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease2015
Charlotte Alston
Professor Robert Taylor
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions2015
Dr Yi Ng
Dr John Grady
Dr Nichola Lax
Dr John Bourke
Charlotte Alston
et al.
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults2015
Charlotte Alston
Dr Robert Pitceathly
Dr Bobby McFarland
Dr Andrew Schaefer
Professor Doug Turnbull
et al.
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease2015
Dr Yi Ng
Charlotte Alston
Professor Rita Horvath
Professor Patrick Chinnery
Professor Doug Turnbull
et al.
A genetic weakness - Phoenician legacy or Celtic heritage?2014
Dr Victoria Nesbitt
Charlotte Alston
Professor Doug Turnbull
Professor Robert Taylor
Dr Bobby McFarland
et al.
A national perspective on prenatal testing for rnitochondrial disease2014
Dr Helen Griffin
Dr Angela Pyle
Charlotte Alston
Dr Jennifer Duff
Dr Gavin Hudson
et al.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations2014
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