Browsing publications by Charlotte Alston

Newcastle AuthorsTitleYearFull text
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Langping He
Charlotte Alston
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
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
Charlotte Alston
Gavin Falkous
Professor Doug Turnbull
Professor Robert Taylor
Dr Grainne Gorman
et al.
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation2014
Abdulraheem Almalki
Charlotte Alston
Mojgan Mohammed 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
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Dr Lyndsey Butterworth
Dr Laura Irving
Charlotte Alston
Dr Emma Watson
Dr Bobby McFarland
et al.
Preimplantation genetic diagnosis for mitochondrial DNA disease2014
Professor Robert Taylor
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Dr Langping He
et al.
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies2014
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