Browsing publications by Dr Helen Tuppen

Newcastle AuthorsTitleYear
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
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
Dr 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
Dr 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
Dr 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
Dr Helen Tuppen
Gareth Greggains
Dr Julie Murphy
Dr Lynsey Cree
Professor Alison Murdoch
et al.		Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease2010
Dr Helen Tuppen
Dr Vanessa Hogan
Dr Langping He
Dr Mazhor Aldosary
Dr Gabriele Saretzki
et al.		The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families2010
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