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 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
Kris Gardner
Dr Brendan Payne
Professor Rita Horvath
Professor Patrick Chinnery
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA2015
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 Yi Ng
Charlotte Alston
Professor Rita Horvath
Professor Patrick Chinnery
Professor Doug Turnbull
et al.
A genetic weakness - Phoenician legacy or Celtic heritage?2014
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
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