Lucie Taylor Dr Langping He Sila Hopton Dr Angela Pyle Professor Robert Taylor et al. | COA5 has an essential role in the early stage of mitochondrial complex IV assembly | 2025 |
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Dr Mahmoud Fassad Dr Katja Menger Sila Hopton Gavin Falkous Professor Bobby McFarland et al. | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability | 2023 |
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Dr Andrew Schaefer Kate Craig Sila Hopton Gavin Falkous Professor Robert Taylor et al. | Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy | 2022 |
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Dr Albert Lim Dr Grace McMacken Francesca Rastelli Dr Monika Olahova Karen Baty et al. | A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features | 2020 |
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Dr Hannah Steele Dr Angela Pyle Sila Hopton Jane Newman Dr Renae Stefanetti et al. | Metabolic effects of bezafibrate in mitochondrial disease. | 2020 |
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Dr Yi Ng Dr Kyle Thompson Daniela Loher Sila Hopton Gavin Falkous et al. | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency | 2020 |
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Dr Charlotte Alston Lucie Taylor Dr Langping He Sila Hopton Professor Bobby McFarland et al. | Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency | 2020 |
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Karen Baty Sila Hopton Dr Isabell Cordts Gavin Falkous Professor Robert Taylor et al. | Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant | 2020 |
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Steven Hardy Sila Hopton Gavin Falkous Professor Robert Taylor
| A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy | 2019 |
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Dr Albert Lim Karen Baty Dr Langping He Sila Hopton Gavin Falkous et al. | A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes | 2019 |
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Charlotte Zierz Karen Baty Sila Hopton Gavin Falkous Dr Andrew Schaefer et al. | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia | 2019 |
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Dr Hannah Hayhurst Charlotte Alston Dr Kyle Thompson Dr Langping He Sila Hopton et al. | Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis | 2019 |
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Christie Waddington Ewen Sommerville Sila Hopton Dr Angela Pyle Professor Zofia Chrzanowska-Lightowlers et al. | Defective mitochondrial protease LonP1 can cause classical mitochondrial disease | 2018 |
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Dr Kyle Thompson Sila Hopton Dr Langping He Professor Robert Taylor
| Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy | 2018 |
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Sila Hopton Gavin Falkous Dr Fiona Norwood Professor Grainne Gorman Professor Robert Taylor et al. | Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene | 2018 |
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Dr Steven Hardy Dr Emma Watson Sila Hopton Professor Robert Taylor
| Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant | 2017 |
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Syeda Ahmed Charlotte Alston Sila Hopton Dr Langping He Gavin Falkous et al. | Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency | 2017 |
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