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Browsing publications by Dr Charlotte Alston

Newcastle AuthorsTitleYearFull text
Dr Charlotte Alston
Lucie Taylor
Dr Langping He
Sila Hopton
Professor Bobby McFarland
et al.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency2020
Dr Kyle Thompson
Jack Collier
Ruth Glasgow
Dr Fiona Robertson
Dr Angela Pyle
et al.
Recent advances in understanding the molecular genetic basis of mitochondrial disease2020
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
Dr Monika Olahova
Jack Collier
Dr Charlotte Alston
Dr Noel Edwards
Dr Langping He
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
Ahmad Alahmad
Haya AL-Balool
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
et al.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing2019
Dr Yi Ng
Dr Mika Martikainen
Dr Grainne Gorman
Dr Alasdair Blain
Dr Andrew Schaefer
et al.
Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study2019
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
Lucie Taylor
Ruth Glasgow
Professor Bobby McFarland
Professor Robert Taylor
et al.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency2018
Dr Monika Olahova
Dr Charlotte Alston
Professor Robert Taylor
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function2018
Dr Charlotte Alston
Professor Robert Taylor
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?2018
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