Research collaborations

The goals of CRE-NMD and ANN are to stimulate and coordinate research on neuromuscular disorders to improve the health outcomes of children and adults affected by neuromuscular disorders. A collaborative network will allow large cohorts of patients to be included in gene discovery, screening and linkage studies, as part of a research work-up to underpin diagnostics, registries and clinical trials.

The research network will continuously advance the knowledge of neuromuscular disorders, communicate this effectively, keep pace with new technology and ensure there is no duplication of effort.

The neuromuscular community is involved in a number of research studies and these are listed below. If you have patients who are affected by any of the disorders below and you are interested in participating in any of these studies, please feel free to make contact with the investigators (email links are included once you click on any of the disorders below).

The investigator will be able to discuss whether your patient/s meet the criteria for the study and provide you with details about the project as well as what information/samples will be required.

You are also welcome to contact us if you have an interesting clinical case.

Centronuclear myopathy

Congenital fibre type disproportion

Congenital muscular dystrophy

DMD: Serial casting in ambulant boys

DMD: Survey of attitudes to population screening


Facioscapulohumeral dystrophy

Foetal akinesia/hypokinesia

Inclusion body myositis

Limb girdle muscular dystrophy

Myotonic dystrophy

Nemaline myopathy

Non-myotonic dystrophy

Spinal muscular atrophy

Syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough