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Browsing publications by Dr Kyle Thompson

Newcastle AuthorsTitleYearFull text
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment2025
Dr Monika Olahova
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency2025
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Professor Wyatt Yue
Professor Robert Taylor
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype2025
Lauren Scott
Dr Joe Berry
Dr Kyle Thompson
Dr Jessica Tarn
Karl Wood
et al.		Investigating the role of tripartite motif containing-21 and interleukin-6 in pro-Inflammatory symptom-associated heterogeneity within primary Sjögren’s syndrome2025
Dr Kyle Thompson
Dr Joe Berry
Professor Fai Ng
Machine learning to classify the focus score and Sjögren's disease using digitalised salivary gland biopsies: a retrospective cohort study2025
Dr Monika Olahova
Dr Jack Collier
Dr Kyle Thompson
Emeritus Professor Robert Lightowlers
Emerita Professor Zofia Chrzanowska-Lightowlers
et al.		RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis2025
Dr Jessica Tarn
John Casement
Dr Dennis Lendrem
Dr Kyle Thompson
Professor Fai Ng
Stability of symptom-based subtypes in Sjogren's disease2024
Dr Kyle Thompson
Dr Langping He
Emerita Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease2023
Professor Fai Ng
Dr Kyle Thompson
Influence of exposure to climate-related hazards in the phenotypic expression of primary Sjögren's syndrome2023
Dr Kyle Thompson
Professor Robert Taylor
Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease2023
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Thomas McCorvie
Professor Wyatt Yue
et al.		Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 542023
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease2022
Dr Kyle Thompson
Benjamin Munro
Dr Daria Diodato
Professor Rita Horvath
Professor Robert Taylor
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease2022
Dr Louise Tanner
Dr Ryan Kenny
Madeleine Still
Dr Fiona Pearson
Dr Kyle Thompson
et al.		NHS Health Check programme: a rapid review update2022
Dr Kyle Thompson
Professor Robert Taylor
Phenotypic continuum of NFU1-related disorders2022
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