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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Emily O'Connor Dr Isabell Cordts George Cairns Daniel Cox Professor Hanns Lochmuller et al. | MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion | 2018 |
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Libby Wood Dr Isabell Cordts Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub et al. | The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research | 2017 |
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