Browsing publications by Dr Angela Pyle

Newcastle AuthorsTitleYear
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
Professor Rita Horvath
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy2012
Professor Rita Horvath
Dr Angela Pyle
Dr Grainne Gorman
Professor Hanns Lochmuller
Professor Robert Taylor
et al.
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK32012
Dr Angela Pyle
Dr Adam Hassani
Professor Robert Taylor
Professor Patrick Chinnery
Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene2012
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