Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
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 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
Professor Rita Horvath
Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect2014
Helen Nightingale
Dr Gerald Pfeffer
Professor Rita Horvath
Chronic and slowly progressive weakness of the legs and hands2014
Professor Rita Horvath
Founder p.Arg 446*mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children2014
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
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
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