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Browsing publications by Dr Charlotte Alston

Newcastle AuthorsTitleYearFull text
Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al.		Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I2020
Dr Charlotte Alston
Marie Appleton
Dr Yi Ng
Dr Grainne Gorman
Professor Bobby McFarland
et al.		Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion2020
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
Millie Fullerton
Professor Bobby McFarland
Professor Robert Taylor
Dr Charlotte Alston
The genetic basis of isolated mitochondrial complex II deficiency2020
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
Dr Charlotte Alston
Dr Grainne Gorman
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.		Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging2020
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
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