Publications by Dr Kyle Thompson - ePrints

Browsing publications by Dr Kyle Thompson.

Newcastle Authors	Title	Year
Dr Kyle Thompson Dr Langping He Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor	Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease	2023
Professor Fai Ng Dr Kyle Thompson	Influence of exposure to climate-related hazards in the phenotypic expression of primary Sjögren's syndrome	2023
Dr Kyle Thompson Professor Robert Taylor	Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease	2023
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 54	2023
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease	2022
Dr Kyle Thompson Benjamin Munro Dr Daria Diodato Professor Rita Horvath Professor Robert Taylor et al.	Elucidating the molecular mechanisms associated with TARS₂-related mitochondrial disease	2022
Dr Louise Tanner Dr Ryan Kenny Madeleine Still Dr Fiona Pearson Dr Kyle Thompson et al.	NHS Health Check programme: a rapid review update	2022
Dr Kyle Thompson Professor Robert Taylor	Phenotypic continuum of NFU1-related disorders	2022
Dr Kyle Thompson Professor Wyatt Yue Professor Robert Taylor	Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations	2021
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 I	2020
Dr Yi Ng Dr Kyle Thompson Daniela Loher Sila Hopton Gavin Falkous et al.	Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency	2020
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 disease	2020
Dr Ewen Sommerville Dr Francesco Bruni Dr Kyle Thompson Dr Mariana Rocha Dr Langping He et al.	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance	2019
Dr Hannah Hayhurst Charlotte Alston Dr Kyle Thompson Dr Langping He Sila Hopton et al.	Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis	2019
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 defect	2018
Dr Kyle Thompson Dr Langping He Professor Robert Taylor	A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways	2018
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 Disorder	2018
Dr Kyle Thompson Professor Robert Taylor	Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism	2018
Dr Francesco Bruni Dr Kyle Thompson Dr Langping He Dr Arjan De Brouwer Professor Robert Taylor et al.	Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)	2018
Dr Kyle Thompson Ahmad Alahmad Dr Langping He Professor Robert Taylor	Expanding the clinical phenotype of IARS2-related mitochondrial disease	2018
Dr Kyle Thompson Sila Hopton Dr Langping He Professor Robert Taylor	Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy	2018
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy	2018
Dr Kyle Thompson Frances White Steven Hardy Professor Robert Taylor	Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults	2018
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 Deficiencies	2017
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 subunits	2017
Dr Monika Olahova Dr Kyle Thompson Dr Steven Hardy Maria-Eleni Anagnostou Dr Kathryn White et al.	Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria	2017
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Dr Angela Pyle Dr Helen Griffin et al.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number	2016
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102	2015
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations	2015