Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
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 Langping He
Charlotte Alston
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
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Professor Rita Horvath
Professor Patrick Chinnery
Modifying Mitochondrial tRNAs: Delivering What the Cell Needs2015
Dr Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Grainne Gorman
Dr Andrew Schaefer
Dr Yi Ng
Charlotte Alston
Catherine Feeney
et al.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease2015
Dr Angela Pyle
Helen Nightingale
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Mauro Santibanez Koref
et al.
Respiratory chain deficiency in nonmitochondrial disease2015
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