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Browsing by Author "O'Connor, Emily"

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Modulation of agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish

O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (MDPI, 2019)

Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the ...
Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome

Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns (Frontiers Media, 2020)

Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early ...
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

McMacken, Grace M.; Spendiff, Sally; Whittaker, Roger G.; O'Connor, Emily; Howarth, Rachel M.; Boczonadi, Veronika; Horvath, Rita; Slater, Clarke R.; Lochmüller, Hanns (Oxford University Press, 2019)

The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the ...

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Browsing by Author "O'Connor, Emily"

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