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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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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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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Karen Baty Dr Achim Treumann
| Bypass of Activation Loop Phosphorylation by Aspartate 836 in Activation of the Endoribonuclease Activity of Ire1 | 2017 |
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Dr Diana Lehmann Karen Baty Professor Robert Taylor
| A novel m.7539C > T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease | 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 Satomi Miwa Dr Howsun Jow Karen Baty Amy Bell Dr Rafal Czapiewski et al. | Low abundance of the matrix arm of complex I in mitochondria predicts longevity in mice | 2014 |
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