Dr Claire McDonald Matt Birkbeck Dr Silvia Del Din Dr Gráinne Gorman Dr Kieren Hollingsworth et al. | A study protocol to investigate if Acipimox improves muscle function and sarcopenia –an open-label, uncontrolled, before-and-after experimental medicine feasibility study in community dwelling older adults. | 2024 |
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Dan Hipps Dr Angela Pyle Dr Anna Porter Philip Dobson Dr Helen Tuppen et al. | Variant load of mitochondrial DNA in single human mesenchymal stem cells | 2024 |
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Dr Helen Tuppen Dr Amy Reeve Dr Amy Vincent
| Single Cell Analysis of Mitochondrial DNA Deletions | 2023 |
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Dr Alaa Abouhajar Dr Lisa Alcock Dr Theophile Bigirumurame Penny Bradley Laura Brown et al. | Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy | 2022 |
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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 level | 2019 |
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Dr Mariana Rocha Hannah Rosa Dr John Grady Dr Langping He Jane Newman et al. | Pathological mechanisms underlying single large-scale mitochondrial DNA deletions | 2018 |
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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 myositis | 2016 |
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Dr Helen Tuppen Professor Robert Taylor
| Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations | 2016 |
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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 disease | 2016 |
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Dr Helen Tuppen Professor Robert Taylor
| A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy | 2015 |
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Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Professor Laura Greaves Dr Langping He et al. | Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression | 2015 |
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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 myopathy | 2015 |
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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 cells | 2015 |
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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 Muscle | 2014 |
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Professor 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 Ageing | 2014 |
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Dr Stuart Williamson Laura Wilson Graeme Williamson Professor Laura Greaves Dr Helen Tuppen et al. | Finding a niche. The location of human prostate stem cells | 2014 |
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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 mutations | 2014 |
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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 cells | 2014 |
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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 mutations | 2014 |
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Dr Helen Tuppen Dr Langping He Professor Robert Taylor
| Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features | 2013 |
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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 cardiomyopathy | 2012 |
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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 epilepsy | 2012 |
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Dr Lyndsey Butterworth Dr Joanna Elson Dr Helen Tuppen Dr Lisa Ferguson Gareth Greggains et al. | Mitochondrial DNA disease: new options for prevention | 2011 |
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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 deficiency | 2011 |
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Professor Rita Horvath Dr Helen Tuppen Professor 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 family | 2010 |
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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 mutation | 2010 |
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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 mutation | 2010 |
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Dr Helen Tuppen Emeritus Professor Doug Turnbull Professor Robert Taylor
| Mitochondrial DNA mutations and human disease | 2010 |
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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 disease | 2010 |
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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 families | 2010 |
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Professor Rita Horvath Dr Helen Tuppen Professor Gavin Hudson Dr Angela Pyle Dr Paul Smith et al. | Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy | 2009 |
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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 muscle | 2009 |
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Dr Helen Tuppen Professor Bobby McFarland Professor Robert Taylor Dr Andrew Morris
| The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome | 2009 |
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Dr Helen Tuppen Fabiana Fattori Professor Bobby McFarland Professor Robert Taylor
| Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations | 2008 |
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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 mutation | 2008 |
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Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al. | Homoplasmy, heteroplasmy, and mitochondrial dystonia | 2007 |
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