Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Dr Peter Kullar
Professor Janet Wilson
Professor Rita Horvath
Dr Patrick Yu Wai Man
Professor Patrick Chinnery
et al.
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction2016
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
Professor Rita Horvath
Dr David Lewis-Smith
Dr Konstantinos Douroudis
Dr Jennifer Duff
Dr Michael Keogh
et al.
SCP2 mutations and neurodegeneration with brain iron accumulation2015
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Dr Brendan Payne
Kris Gardner
Professor Rita Horvath
Professor Robert Taylor
Professor Patrick Chinnery
et al.
Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment2015
Dr Michael Keogh
Dr Angela Pyle
Daniyal Daud
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB2015
Dr Grainne Gorman
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Jessica Gabriel
et al.
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 282015
Professor Rita Horvath
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene2015
Dr Roger Whittaker
Dr Boglarka Bansagi
Professor Rita Horvath
Professor Hanns Lochmuller
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome2015
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