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Browsing publications by
Dr Kyle Thompson
Newcastle Authors
Title
Year
Full text
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
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