Browsing publications by Dr Helen Tuppen

Newcastle AuthorsTitleYear
Dr Hue Hornig - Do
Dr Arianna Montanari
Agata Rozanska
Dr Helen Tuppen
Abdulraheem Almalki
et al.
Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations2014
Gareth Greggains
Dr Lisa Lister
Dr Helen Tuppen
Qi Zhang
Dr Nilendran Prathalingam
et al.
Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations2014
Dr Helen Tuppen
Dr Arianna Montanari
Martina Leopizzi
Professor Robert Taylor
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy2012
Dr Helen Tuppen
John Yarham
Professor Robert Taylor
Dr Bobby McFarland
Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy2012
Dr Joanna Elson
Dr Helen Tuppen
Dr Lisa Lister
Gareth Greggains
Professor Alison Murdoch
et al.
Mitochondrial DNA disease: new options for prevention2011
Dr Angela Pyle
Vivienne Neeve
Dr Helen Tuppen
Professor Hanns Lochmuller
Dr Bobby McFarland
et al.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency2011
Professor Rita Horvath
Dr Helen Tuppen
Dr Gavin Hudson
Dr Angela Pyle
Dr Paul Smith
et al.
Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family2010
Dr Helen Tuppen
Dr Bobby McFarland
Professor Rita Horvath
Professor Doug Turnbull
Professor Robert Taylor
et al.
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation2010
Dr Helen Tuppen
Dr Bobby McFarland
Professor Rita Horvath
Professor Doug Turnbull
Professor Robert Taylor
et al.
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation2010
Dr Helen Tuppen
Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial DNA mutations and human disease2010
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