Kamil Sitarz Dr Patrick Yu Wai Man Dr Angela Pyle Joanna Stewart Professor Rita Horvath et al. | MFN2 mutations cause compensatory mitochondrial DNA proliferation | 2012 |
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Dr Kamil Sitarz Dr Patrick Yu Wai Man Dr Angela Pyle Joanna Stewart Professor Rita Horvath et al. | MFN2 mutations cause compensatory mitochondrial DNA proliferation | 2012 |
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Joanna Stewart Kamil Sitarz Professor Rita Horvath Dr Angela Pyle Dr Patrick Yu Wai Man et al. | POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts | 2011 |
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Joanna Stewart Professor Gavin Hudson Professor Hanns Lochmuller Professor Patrick Chinnery Professor Rita Horvath et al. | Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2 | 2010 |
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Joanna Stewart Professor Rita Horvath Professor Chris Day Professor Patrick Chinnery
| Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity | 2010 |
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Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al. | Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients | 2009 |
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Joanna Stewart Professor Rita Horvath Professor Patrick Chinnery
| Common POLG Genetic Variants Increase the Risk of Sodium Valproate Induced Liver Injury and Failure | 2009 |
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Joanna Stewart Professor Patrick Chinnery Professor Hanns Lochmuller Professor Rita Horvath
| In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes | 2009 |
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Joanna Stewart Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Philip Griffiths et al. | OPA1 in multiple mitochondrial DNA deletion disorders | 2008 |
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Joanna Stewart Professor Robert Taylor Professor Patrick Chinnery
| Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma | 2008 |
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Joanna Stewart Professor Gavin Hudson Professor Robert Taylor Professor Patrick Chinnery
| Mutations in POLG1 can present with autosomal recessive axonal Charcot-Marie-Tooth disease | 2008 |
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Joanna Stewart Dr Angela Pyle Emeritus Professor Mike Sir Michael Rawlins Professor Gavin Hudson Dr Andrew Morris et al. | Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. | 2008 |
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Joanna Stewart Professor Gavin Hudson Professor Robert Taylor Professor Patrick Chinnery
| POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease | 2008 |
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Joanna Stewart
| A paediatric case of a solitary fibrous tumour of the parotid gland | 2004 |
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