Browsing publications by Charlotte Alston

Newcastle AuthorsTitleYearFull text
Charlotte Alston
Professor Robert Taylor
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis2016
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
Charlotte Alston
Dr Monika Olahova
Dr John Yarham
Dr Langping He
Professor Robert Taylor
et al.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype2016
Mika Martikainen
Dr Yi Ng
Dr Grainne Gorman
Charlotte Alston
Dr Andrew Schaefer
et al.
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease2016
Amy Vincent
Hannah Rosa
Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
Dr Ian Wilson
Pip Carling
Charlotte Alston
Vasileios Floros
Dr Angela Pyle
et al.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck2016
Amy Vincent
Dr John Grady
Dr Mariana Rocha
Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Charlotte Alston
Professor Robert Taylor
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function2016
Charlotte Alston
Professor Robert Taylor
Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families2016
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
Paula Hynd
Charlotte Alston
et al.
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination2016
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