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Browsing publications by Dr Charlotte Alston

Newcastle AuthorsTitleYearFull text
Dr Yi Ng
Dr Nichola Lax
Dr Charlotte Alston
Philippa Hepplewhite
Professor Patrick Chinnery
et al.		MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load2018
Dr Charlotte Alston
Professor Robert Taylor
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency2018
Dr Charlotte Alston
Dr Ki Pang
Professor Bobby McFarland
Professor Robert Taylor
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion2018
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
Dr Mika Martikainen
Dr John Grady
Dr Yi Ng
Dr Charlotte Alston
Dr Grainne Gorman
et al.		Decreased male reproductive success in association with mitochondrial dysfunction2017
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
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