Browsing publications by Dr Veronika Boczonadi

Newcastle AuthorsTitleYearFull text
Dr Veronika Boczonadi
Michele Giunta
Maria Lane
Professor Rita Horvath
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease2015
Dr Veronika Boczonadi
Dr Boglarka Bansagi
Professor Rita Horvath
Reversible infantile mitochondrial diseases2015
Dr Veronika Boczonadi
Dr Angela Pyle
Dr Boglarka Bansagi
Marie Appleton
Professor Hanns Lochmuller
et al.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency2014
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 Veronika Boczonadi
Professor Rita Horvath
Mitochondria: Impaired mitochondrial translation in human disease2014
Dr Veronika Boczonadi
Dr Iain Keenan
Dr Simon Ramsbottom
Charlotte Donald-Wilson
Professor Deborah Henderson
et al.
Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium2014
Professor Rita Horvath
Dr Roger Whittaker
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Veronika Boczonadi
et al.
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy2014
Dr Veronika Boczonadi
Dr Paul Smith
Dr Angela Pyle
Dr Aurora Gomez Duran
Professor Patrick Chinnery
et al.
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency2013
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Veronika Boczonadi
Dr Paul Smith
Professor Patrick Chinnery
Professor Rita Horvath
Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency2013
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