Publications by Dr Kyle Thompson - ePrints

Browsing publications by Dr Kyle Thompson

Newcastle Authors	Title	Year
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 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