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Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.		Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
Professor Patrick Chinnery
Professor Rita Horvath
Professor Bobby McFarland
Dr Victoria Nesbitt
Dr Hannah Steele
et al.		Diagnosis of 'possible' mitochondrial disease: an existential crisis2019
Dr Suren Kanagasundaram
Dr Simon Baudouin
Sarah Rowling
Professor John Dark
Professor Tim Goodship
et al.		Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery2019
Dr Michael Keogh
Dr Ian Wilson
Dr Jonathan Coxhead
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
et al.		Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains2017
Dr Patrick Yu Wai Man
Dr Holly Duncan
Dr Joseph Guadagno
Professor Patrick Chinnery
A multiple sclerosis-like disorder in patients with OPA1 mutations2016
Dr Hannah Steele
Dr Lizzie Harris
Dr Rita Barresi
Dr John Bourke
Professor Volker Straub
et al.		Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study2016
Professor Patrick Chinnery
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency2016
Dr Grant Guthrie
Dr Gerald Pfeffer
Andrew Browning
Professor Rita Horvath
Professor Patrick Chinnery
et al.		Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (vol 260, pg 906, 2013)2016
Dr Kyle Thompson
Dr Charlotte Alston
Dr Langping He
Dr Angela Pyle
Dr Helen Griffin
et al.		Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies2016
Dr David Lewis-Smith
Dr Anna Basu
Dr Vankateswara Ramesh
Professor Patrick Chinnery
Repeated dramatic reversal of thiamine-responsive necrotising encephalopathy due to SLC19A3 mutations emphasises the importance of considering vitamin-responsive pathologies in acute neurology2016
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