Publications by Dr Francesco Bruni - ePrints

Browsing publications by Dr Francesco Bruni.

Newcastle Authors	Title	Year
Dr Francesco Bruni Dr Langping He Professor Robert Taylor Professor Zofia Chrzanowska-Lightowlers	Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy	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 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 disease	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
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 neurons	2018
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 neurons	2016
William Wilson Dr Hue Hornig - Do Dr Francesco Bruni Professor Rick Lewis Dr Lorraine Hewitt et al.	A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression	2014
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 tRNA	2014