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Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Dr Yi Ng
Dr Nichola Lax
Dr Charlotte Alston
Philippa Hepplewhite
Professor Patrick Chinnery
et al.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load2018
Marina Bartsakoulia
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
Dr Veronika Boczonadi
et al.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies2018
Professor Rita Horvath
Professor Patrick Chinnery
First-line genomic diagnosis of mitochondrial disorders2018
Dr Michael Keogh
Dr Wei Wei
Dr Ian Wilson
Professor Johannes Attems
Dr Christopher Morris
et al.
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains2018
Dr Vasileios Floros
Dr Angela Pyle
Dr Wei Wei
Dr Brendan Payne
Dr Jonathan Coxhead
et al.
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos2018
Dr Marzena Kurzawa-Akanbi
Professor Patrick Chinnery
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA12018
Professor Patrick Chinnery
Professor Paul Corris
Ingrid Emmerson
Professor Rita Horvath
Dr Sally Johnson
et al.
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data2018
Dr Ewen Sommerville
Dr Grainne Gorman
Professor Doug Turnbull
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA2018
Dr Wei Wei
Dr Aurora Gomez Duran
Dr Gavin Hudson
Professor Patrick Chinnery
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations2017
Dr Monika Olahova
Dr Kyle Thompson
Dr Charlotte Alston
Professor Patrick Chinnery
Professor Zofia Chrzanowska-Lightowlers
et al.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies2017
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