Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYear
Helen Nightingale
Dr Gerald Pfeffer
Professor Rita Horvath
Chronic and slowly progressive weakness of the legs and hands2014
Dr Veronika Boczonadi
Professor Rita Horvath
Mitochondria: Impaired mitochondrial translation in human disease2014
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Angela Pyle
Professor Rita Horvath
Professor Patrick Chinnery
et al.
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Professor Rita Horvath
Professor Volker Straub
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT22014
Dr Kamil Sitarz
Dr Hannah Elliott
Betul Karaman
Professor Caroline Relton
Professor Patrick Chinnery
et al.
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts2014
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
Professor Rita Horvath
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients2013
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