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Browsing publications by Dr Helen Tuppen.

Newcastle AuthorsTitleYearFull text
Dr Diana Lehmann
Dr Helen Tuppen
Georgia Campbell
Charlotte Alston
Dr Conor Lawless
et al.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level2019
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions2018
Dr Karolina Rygiel
Dr Helen Tuppen
Dr John Grady
Dr Amy Vincent
Dr Amy Reeve
et al.
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis2016
Dr Helen Tuppen
Professor Robert Taylor
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations2016
Dr Louise Hyslop
Dr Lyndsey Butterworth
Mahdi Lamb
Dr Nilendran Prathalingam
Qi Zhang
et al.
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease2016
Dr Helen Tuppen
Professor Robert Taylor
A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy2015
Professor Grainne Gorman
Dr Hue Hornig - Do
Dr Helen Tuppen
Dr Laura Greaves
Dr Langping He
et al.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression2015
Dr Diana Lehmann
Dr Steven Hardy
Dr Helen Tuppen
Karen Baty
Professor Robert Taylor
et al.
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy2015
Dr Karolina Rygiel
Dr John Grady
Professor Robert Taylor
Dr Helen Tuppen
Emeritus Professor Doug Turnbull
et al.
Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells2015
Dr John Grady
Dr Julie Murphy
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Dr Helen Tuppen
et al.
Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle2014
Dr Laura Greaves
Marco Nooteboom
Dr Joanna Elson
Dr Helen Tuppen
Geoffrey Taylor
et al.
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing2014
Dr Stuart Williamson
Laura Wilson
Graeme Williamson
Dr Laura Greaves
Dr Helen Tuppen
et al.
Finding a niche. The location of human prostate stem cells2014
Dr Hue Hornig - Do
Dr Arianna Montanari
Dr Agata Rozanska
Dr Helen Tuppen
Abdulraheem Almalki
et al.
Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations2014
Dr Arianna Montanari
Dr Helen Tuppen
Professor Robert Taylor
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells2014
Gareth Greggains
Dr Lisa Ferguson
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 Langping He
Professor Robert Taylor
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features2013
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
Professor Bobby McFarland
Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy2012
Dr Lyndsey Butterworth
Dr Joanna Elson
Dr Helen Tuppen
Dr Lisa Ferguson
Gareth Greggains
et al.
Mitochondrial DNA disease: new options for prevention2011
Dr Angela Pyle
Vivienne Neeve
Dr Helen Tuppen
Professor Hanns Lochmuller
Professor 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
Professor Bobby McFarland
Professor Rita Horvath
Emeritus 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 Bobby McFarland
Professor Rita Horvath
Emeritus 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
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial DNA mutations and human disease2010
Dr Lyndsey Butterworth
Dr Helen Tuppen
Gareth Greggains
Dr Julie Murphy
Dr Lynsey Cree
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
Professor Rita Horvath
Dr Helen Tuppen
Dr Gavin Hudson
Dr Angela Pyle
Dr Paul Smith
et al.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy2009
Professor Bobby McFarland
Dr Helen Tuppen
Dr Andrew Morris
Dr Anita Devlin
Professor Robert Taylor
et al.
Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle2009
Dr Helen Tuppen
Professor Bobby McFarland
Professor Robert Taylor
Dr Andrew Morris
The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome2009
Dr Helen Tuppen
Fabiana Fattori
Professor Bobby McFarland
Professor Robert Taylor
Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations2008
Dr Joanna Rorbach
Dr Helen Tuppen
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation2008
Professor Bobby McFarland
Professor Patrick Chinnery
Dr Andrew Schaefer
Dr Andrew Morris
Sharon Foster
et al.
Homoplasmy, heteroplasmy, and mitochondrial dystonia2007