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

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

Journal of Neuromuscular Diseases: Volume 7, issue 2

 

*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:

  • Pseudoexons of the DMD gene
  • Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2
  • Relationship between eating and digestive symptoms and respiratory function in advanced Duchenne muscular dystrophy patients
  • Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening – Opportunity or burden?
  • Upregulation of hallmark muscle genes protects Gne M743T/M743T mutated knock-in mice from kidney and muscle phenotype
  • Clinical and genetic features in a series of eight unrelated patients with neuropathy due to Glycyl-tRNA Synthetase (GARS) variants
  • RESTORE: A prospective multinational registry of patients with genetically confirmed spinal muscular atrophy – Rationale and study design
  • Improved criteria for the classification of titin variants in inherited skeletal myopathies
  • Characterizing enrollment in observational studies of Duchenne muscular dystrophy by race and ethnicity
  • The slipping slipper sign: A poor man’s test for severe diabetic peripheral neuropathy
  • Scoliosis surgery significantly impacts motor abilities in higher-functioning individuals with spinal muscular atrophy
  • Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review
Journal of Neuromuscular Diseases

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