Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYear
Dr Veronika Boczonadi
Dr Juliane Mueller
Dr Angela Pyle
Dr Jennifer Munkley
Michele Giunta
et al.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia2014
Dr Brendan Payne
Dr Kieren Hollingsworth
David Ashley Price
Professor Michael Trenell
Professor Patrick Chinnery
et al.
In Vivo Mitochondrial Function in HIV-Infected Persons Treated with Contemporary Anti-Retroviral Therapy: A Magnetic Resonance Spectroscopy Study2014
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission-OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands2014
Dr Gerald Pfeffer
Professor Patrick Chinnery
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure2014
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Hannah Steele
Dr Jennifer Duff
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile onset parkinsonism2014
Dr Patrick Yu Wai Man
Dr Angela Pyle
Dr Helen Griffin
Dr Mauro Santibanez Koref
Professor Rita Horvath
et al.
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes2014
Dr Alison Yarnall
Dr Gordon Duncan
Dr Shirley Coleman
Dr Michael Firbank
Dr Gavin Hudson
et al.
Characterizing mild cognitive impairment in incident Parkinson disease The ICICLE-PD Study2014
Dr John Yarham
Dr Angela Pyle
Dr Francesco Bruni
Dr Langping He
Dr Helen Griffin
et al.
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA2014
Dr Gavin Hudson
Dr Angela Pyle
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy2014
Kris Gardner
Professor Patrick Chinnery
Dr Brendan Payne
HIV Treatment and Associated Mitochondrial Pathology: Review of 25 Years of in Vitro, Animal, and Human Studies2014
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