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Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Rebecca Brennan
Dr Angela Pyle
Professor Heather Cordell
Professor Patrick Chinnery
Dr Gavin Hudson
et al.
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts2019
Dr Paul Brennan
Professor John Sayer
Professor Patrick Chinnery
Germline selection shapes human mitochondrial DNA diversity2019
Dr Hannah Steele
Professor Rita Horvath
Professor Patrick Chinnery
Dr Anna Basu
Dr Ian Wilson
et al.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study2019
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
Dr Mauro Santibanez Koref
Dr Helen Griffin
Professor Doug Turnbull
Professor Patrick Chinnery
Professor Mary Herbert
et al.
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution2018
Dr John Widdrington
Dr Aurora Gomez Duran
Dr Angela Pyle
Dr Marie Ruchaud-Sparagano
Jonathan Scott
et al.
Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses2018
Professor Rita Horvath
Professor Patrick Chinnery
First-line genomic diagnosis of mitochondrial disorders2018
Dr Peter Kullar
Professor Janet Wilson
Professor Patrick Chinnery
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family2018
Dr Lauren Walker
Dr Jonathan Coxhead
Dr Ian Wilson
Dr Matthew Bashton
Dr Christopher Morris
et al.
High prevalence of focal and multi-focal somatic genetic variants in the human brain2018
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