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

Read next...

Sally describes lab research to FSHD visitors

Lochmüller Lab hosts information session on clinical research for FSHD

On Saturday June 11th we were delighted to welcome individuals and families living with facioscapulohumeral muscular dystrophy (FSHD) and members of the FSHD Society to...

May 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its third issue of 2022! In Volume 9, Issue...

CHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial

The Lochmüller Lab is excited to share that as of March 14, 2022 our site at the Children’s Hospital of Eastern Ontario (CHEO) has registered...

Canadian Neuromuscular Disease Registry Launches New Congenital Myasthenic Syndrome Registry

We’re delighted to announce that a new registry for patients with congenital myasthenic syndrome (CMS) has just been launched within the Canadian Neuromuscular Disease Registry (CNDR).  This...
Lochmuller Lab at the Rideau Canal, group picture.

Lochmüller Lab Visits World’s Longest Skating Rink

This February the Lochmüller Lab took a break from the research benches at the CHEO RI to visit the Rideau Canal Skateway. A UNESCO world...

January 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its first issue of 2022! In Volume 9, Issue...