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Browsing publications by Dr Kyle Thompson

Newcastle AuthorsTitleYearFull text
Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al.		OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect2018
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways2018
Dr Monika Olahova
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder2018
Dr Kyle Thompson
Professor Robert Taylor
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism2018
Dr Kyle Thompson
Ahmad Alahmad
Dr Langping He
Professor Robert Taylor
Expanding the clinical phenotype of IARS2-related mitochondrial disease2018
Dr Kyle Thompson
Sila Hopton
Dr Langping He
Professor Robert Taylor
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy2018
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy2018
Dr Kyle Thompson
Frances White
Steven Hardy
Professor Robert Taylor
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults2018
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
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
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