Latest edition of the Journal of Neuromuscular Diseases now online – Jun 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:

Journal of Neuromuscular Diseases: Volume 7, issue 3

(click to view it at the journal website)

*Hanns is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.

 

Articles in this issue:

(click to view all)

  • Is gene size an issue for the diagnosis of skeletal muscle disorders?
  • Clinical phenotypes of DMD exon 51 skip equivalent deletions: A systematic review
  • Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
  • Evaluation of genotypes and epidemiology of spinal muscular atrophy in Greece: A nationwide study spanning 24 years
  • Prospective cohort study of nusinersen treatment in adults with spinal muscular atrophy
  • Retrospective analysis of exulizumab in partients with acetylcholine receptor antibody-negative myasthenia gravis: A case series
  • Laboratory tests for neuropathies: What to do and to avoid
  • Dysphagia and dysarthria in children with neuromuscular diseases, a prevalance study
  • Myasthenia gravis impairment index: Sensitivity for change in generalized muscle weakness
  • Confirmation of TAC01 as a Leigh syndrome disease gene in two additional families
  • Carey-Fineman-Ziter syndrome: A MYMK-related myopathy mimicking brainstem dysgensis
  • Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy
  • Feeding and swallowing problems in infants with spinal muscular atrophy type 1: An observational study
  • Assessing physical activity using accelerometers in youth with Duchenne muscular dystrophy
  • Rehabilitation following fracture in dystrophinopathy, a case series
  • Chronic progressive external ophthalmoplegia due to a rare de novo m.12334G>A MT-TL2 mitochondrial DNA variant
  • COVID-19 in refractory myasthenia gravis – A case report of successful outcome
  • Myotubular trust – 2020 call for projects (open to international applications)
Journal of Neuromuscular Diseases

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