Browsing publications by Dr Angela Pyle

Newcastle AuthorsTitleYearFull text
Dr Michael Keogh
Dr Marzena Kurzawa-Akanbi
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Kristin Ayers
et al.
Exome sequencing in dementia with Lewy bodies2016
Dr Ian Wilson
Pip Carling
Charlotte Alston
Vasileios Floros
Dr Angela Pyle
et al.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck2016
Dr Angela Pyle
Haidyan Anugrha
Dr Marzena Kurzawa-Akanbi
Dr Alison Yarnall
Professor David Burn
et al.
Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease2016
Dr Jonathan Coxhead
Dr Marzena Kurzawa-Akanbi
Raf Hussain
Dr Angela Pyle
Professor Patrick Chinnery
et al.
Somatic mtDNA variation is an important component of Parkinson's disease2016
Professor Rita Horvath
Dr David Lewis-Smith
Dr Konstantinos Douroudis
Dr Jennifer Duff
Dr Michael Keogh
et al.
SCP2 mutations and neurodegeneration with brain iron accumulation2015
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
Joanna Rorbach
Charlotte Alston
Dr Helen Griffin
Dr Angela Pyle
Professor Patrick Chinnery
et al.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Dr Michael Keogh
Dr Angela Pyle
Daniyal Daud
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB2015
Dr Grainne Gorman
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Jessica Gabriel
et al.
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 282015
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