Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Kyle Thompson.

Newcastle AuthorsTitleYearFull text
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
et al.
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 Wyatt Yue
Professor Robert Taylor
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations2021
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 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 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
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 maintenance2019
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 prognosis2019
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 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 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
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 aciduria2017
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 Deficiencies2016
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 Number2016
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.2015.001022015
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 mutations2015