Elizabeth Harris

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Publications (6)

• Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.
  2016 DOI: 10.1016/j.nmd.2016.10.009
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• Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
  2016
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• Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
  2016 DOI: 10.1212/wnl.0000000000003064
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• The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
  2016 DOI: 10.1212/nxg.0000000000000089
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• Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
  2016 DOI: 10.1136/jnnp-2015-310362
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• ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
  2013 DOI: 10.1002/humu.22342
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