Neuromuscular Disorders
We work to translate an understanding of the molecular mechanisms of disease at the neuromuscular synapse into treatments. Our work led us to be commissioned to provide a National Advisory and Diagnostic Service for congenital myasthenic syndromes.
Overview
We study diseases that affect neuromuscular transmission, with the major focus on mutations of muscle acetylcholine receptors (AChR) and of proteins that govern synaptic structure.
Research
The neuromuscular synapse is both well understood and accessible for study. Functional analysis of mutations at the molecular level can be directly correlated with measurements of defective synaptic transmission in vivo and with the clinical features of the patients.
The work ranges from the studies of single channels, through to animal models of disease, to phenotypic characterisation of patients. It provides translational research of bedside to bed and back, with the bench research generating data directly relevant to patient treatment regimes. Moreover, a detailed knowledge of inherited dysfunction of neuromuscular transmission forms a paradigm for investigation of other neurological syndromes that may result from defective synaptic transmission in the CNS.
Available Student Projects
- Develop a positive allosteric modulator of skeletal muscle nicotinic acetylcholine receptor
- Study the ultrastructure of the neuromuscular junction using FIB milling and cryo electron tomorgraphy
Research projects
- Searching for new genes associated with the congenital myasthenic syndromes using next generation sequencing
- Using a combination of biochemistry, molecular biology, electrophysiology and advanced microscopy to study the molecular mechanisms underlying disease
- Testing novel therapies for inherited disorders of neuromuscular transmission using transgenic models
Congenital Myasthenia Service
The Congenital Myasthenia Service provides a nationally commissioned specialised service for the diagnosis and management of children and adults in whom a congenital myasthenic syndrome is suspected.
Latest publications
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Reliability of a clinical sensory test battery in patients with spine‐related leg and arm pain
Journal article
Bender C. et al, (2024), European Journal of Pain
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Age-specific sex-differences in cerebral blood flow velocity in relation to haemoglobin levels
Journal article
MAZZUCCO S. et al, (2024), European Stroke Journal
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Reproducibility of arterial spin labeling cerebral blood flow image processing: A report of the ISMRM open science initiative for perfusion imaging (OSIPI)_and the ASL MRI challenge.
Journal article
Paschoal AM. et al, (2024), Magn Reson Med
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Electroencephalogram (EEG) and behavioural data concerning the Go/NoGo/Conflict task
Dataset
Mandali A. et al, (2024)