Dr Monika Olahova Dr Ewen Sommerville Dr Jack Collier Professor Grainne Gorman Professor Robert Taylor et al. | POLRMT mutations impair mitochondrial transcription causing neurological disease | 2021 |
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Dr Ewen Sommerville Professor Robert Taylor
| The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency | 2020 |
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Dr Ewen Sommerville Professor Robert Hirt
| Characterization of the BspA and Pmp protein family of trichomonads | 2019 |
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Dr Ewen Sommerville Dr Francesco Bruni Dr Kyle Thompson Dr Mariana Rocha Dr Langping He et al. | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance | 2019 |
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Dr Ewen Sommerville Dr Monika Olahova Dr Angela Pyle Dr Langping He Professor Bobby McFarland et al. | Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy | 2019 |
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Professor Robert Taylor Professor Bobby McFarland Professor Grainne Gorman Dr Ewen Sommerville Professor Patrick Chinnery et al. | Retrospective natural history of thymidine kinase 2 deficiency | 2018 |
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Dr Thomas Nicholls Dr Ewen Sommerville Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al. | Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA | 2018 |
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Dr Ewen Sommerville Dr Yi Ng Dr Charlotte Alston Dr Langping He Charlotte Knowles et al. | Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy | 2017 |
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Dr Ewen Sommerville Rachel Phelps Dr Steven Hardy Dr Angela Pyle Dr Andrew Schaefer et al. | Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia | 2017 |
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Dr Ewen Sommerville Professor Patrick Chinnery Professor Grainne Gorman Professor Robert Taylor
| Adult-onset Mendelian PEO Associated with Mitochondrial Disease | 2014 |
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