Sunitha Balaraju Dr Ana Topf Dr Grace McMacken Professor Robert Taylor Professor Rita Horvath et al. | Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant | 2019 |
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Dr Grace McMacken Dr Sally Spendiff Professor Roger Whittaker Emily O'Connor Rachel Howarth et al. | Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome | 2019 |
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