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Browsing publications by Dr Charlotte Alston

Newcastle AuthorsTitleYearFull text
Dr Charlotte Alston
Professor Robert Taylor
Professor Hanns Lochmuller
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome2025
Lucie Taylor
Professor Robert Taylor
Dr Charlotte Alston
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model2025
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al.		Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland2025
Dr Louise Hyslop
Dr Magomet Aushev
Jordan Marley
Dr Yuko Takeda
Dr Angela Pyle
et al.		Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease2025
Lucie Taylor
Dr Albert Lim
Professor Bobby McFarland
Professor Matthias Trost
Dr Charlotte Alston
et al.		Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease2024
Dr Charlotte Alston
Professor Robert Taylor
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease2024
Eleni Mavraki
Dr Charlotte Alston
Charlotte Knowles
Jack Baines
Professor Robert Taylor
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines2023
Dr Dasha Deen
Dr Charlotte Alston
Professor Gavin Hudson
Professor Robert Taylor
Dr Angela Pyle
Genomic Strategies in Mitochondrial Diagnostics2023
Dr Charlotte Alston
Rui Ban
Professor Robert Taylor
Clinical implementation of RNA sequencing for Mendelian disease diagnostics2022
Dr Albert Lim
Dr Yi Ng
Dr Alasdair Blain
Dr Cecilia Jimenez Moreno
Dr Charlotte Alston
et al.		Natural History of Leigh Syndrome: A Study of Disease Burden and Progression2022
Dr Jack Collier
Dr Oliver Russell
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
et al.		Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms2022
Dr Charlotte Alston
Professor Gavin Hudson
Professor Robert Taylor
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines2021
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
Professor 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
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