Browsing publications by Dr Charlotte Alston

Newcastle AuthorsTitleYearFull text
Dr Monika Olahova
Dr Kyle Thompson
Dr Charlotte Alston
Professor Patrick Chinnery
Professor Zofia Chrzanowska-Lightowlers
et al.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies2017
Dr Ewen Sommerville
Dr Yi Ng
Dr Charlotte Alston
Dr Langping He
Charlotte Knowles
et al.
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy2017
Ewen Sommerville
Dr Charlotte Alston
Dr Angela Pyle
Dr Langping He
Gavin Falkous
et al.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities2017
Dr Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
Ruth Glasgow
Dr Kyle Thompson
Dr Langping He
Dr Charlotte Alston
Professor Bobby McFarland
et al.
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits2017
Dr Charlotte Alston
Professor Robert Taylor
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions2017
Dr Charlotte Alston
Professor Robert Taylor
Professor Doug Turnbull
Recent Advances in Mitochondrial Disease2017
Dr Charlotte Alston
Dr Mariana Rocha
Dr Nichola Lax
Professor Doug Turnbull
Professor Robert Taylor
et al.
The genetics and pathology of mitochondrial disease2017
Dr Charlotte Alston
Professor Robert Taylor
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis2016
Dr Charlotte Alston
Dr Monika Olahova
Dr Steven Hardy
Dr Langping He
Professor Robert Taylor
et al.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype2016
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