Neuromuscular Diseases

Main lines of research

Autoimmune neuromuscular diseases

  • Characterization of new target antigens in Myasthenia Gravis, and immune neuropathies (CIDP, GBS, MMN). Their use as diagnostic and therapeutic biomarkers.
  • Pathogenesis of newly recognized paranodal antigens in CIDP.
  • Analysis of the innate immunity in inflammatory myopathies.
  • Analysis of the impact of new immunomodulating therapies on IgG4 mediated Neuromuscular Diseases (NMD).
  • Functional aspects of immune system cells (response to ligands, production of
    antibodies, etc).
  • IGOS data base for Guillain Barre syndrome.
  • NMD-ES Spanish registry for neuromuscular diseases.

Muscular dystrophy, dysferlinopathy and distal myopathies

  • Muscle MRI analysis as a biomarker of different muscular dystrophies.
  • Study of miRNA profiles and muscle secretome in muscular dystrophies.
  • Role of PDGF in muscular dystrophies fibrosis.
  • Natural history of Dysferlinopathies. The international COS-study Jain Foundation.
  • To evaluate the frequency of carriers of mutations in the dyferlin gene in normal

Amyotrophic lateral sclerosis

  • Epidemiology of ALS in Catalonia.
  • Gene profile of ALS patients in Spain.
  • Biomarkers profile in different phenotypes of ALS.


  • Advance in the knowledge of the immunological mechanisms involved in the pathogenesis of autoimmune neuromuscular diseases (MG, CIDP, MMN).
  • Advance in the knowledge of the pathogenetic mechanisms of inflammatory myopathies (DM, PM, IBM).
  • Search for new antigens and develop diagnostic tests with new biomarkers in immune –mediated neuropathies and Myasthenia Gravis.
  • Implement new diagnostic and disease follow-up methods for muscular dystrophies resulting from dysferlinopathy and other myopathies research (biomarkers (miRNA, secretome), MRI, etc).
  • Advance in the knowledge of the pathogenetic mechanisms involved in muscular dystrophy resulting from dysferlin deficiency and other muscular dystrophies.
  • Cleanroom access to manipulate cells for use in humans.
  • Use of the NMD.ES registry to perform research in different NMD.

Additional information : Neuromuscularbcn

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