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Browsing publications by Dr Kyle Thompson

Newcastle AuthorsTitleYearFull text
Dr Monika Olahova
Dr Kyle Thompson
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
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
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
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