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Browsing publications by Dr Francesco Bruni

Newcastle AuthorsTitleYearFull text
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Professor Zofia Chrzanowska-Lightowlers
Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy2020
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 Francesco Bruni
Professor Bobby McFarland
Professor Zofia Chrzanowska-Lightowlers
Dr Langping He
Professor Robert Taylor
et al.
Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease2018
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 Veronika Boczonadi
Dr Helen Griffin
Dr Andreas Roos
Marina Bartsakoulia
Dr Boglarka Bansagi
et al.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons2018
Dr Veronika Boczonadi
Marina Bartsakoulia
Dr Boglarka Bansagi
Dr Francesco Bruni
Dr Juliane Mueller
et al.
Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons2016
William Wilson
Dr Hue Hornig - Do
Dr Francesco Bruni
Professor Rick Lewis
Dr Loraine Hewitt
et al.
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression2014
Dr John Yarham
Dr Angela Pyle
Dr Francesco Bruni
Dr Langping He
Dr Helen Griffin
et al.
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA2014