Browsing publications by Dr Angela Pyle

Newcastle AuthorsTitleYear
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
Dr Gavin Hudson
Dr Angela Pyle
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy2014
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Dr Veronika Boczonadi
Dr Paul Smith
Dr Angela Pyle
Dr Aurora Gomez Duran
Professor Patrick Chinnery
et al.
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency2013
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Joanna Collerton
Dr Angela Pyle
Dr Gavin Hudson
Mohammad Yadegarfar
Karen Davies
et al.
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinksi
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Dr Angela Pyle
Dr Helen Griffin
Dr Michael Keogh
Dr Mauro Santibanez Koref
Professor Patrick Chinnery
et al.
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation2013
Dr Kamil Sitarz
Professor Rita Horvath
Dr Angela Pyle
Professor Robert Taylor
Professor Patrick Chinnery
et al.
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy2012
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
Dr Gavin Hudson
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy2012
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