The Neuromuscular Disease Network for Canada

funder-logos_nmd4c

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

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

Journal of Neuromuscular Diseases: Volume 7, issue 4

*NMD4C lead investigator Hanns Lochmüller 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:

  • Towards central nervous system involvement in adults with hereditary myopathies
  • Induction of skeletal muscle progenitors and stem cells from human induced pluripotent stem cells
  • Lower extremity muscle involvement in the intermediate and Bethlem myopathy forms of COL6-related dystrophy and Duchenne muscular dystrophy: A cross-sectional study
  • Ganglionopathies associated with MERRF syndrome: An original report
  • Respiratory dysfunction in Becker muscular dystrophy patients: A case series and autopsy report
  • Decision-making and selection bias in four observational studies on Duchenne and Becker muscular dystrophy
  • Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations
  • Natural history of type 1 spinal muscular atrophy in a series of Argentinian children
  • Neuroanatomical models of muscle strength and relationship to ambulatory function in spinal muscular atrophy
  • Facilitators and barriers to wearing hand orthoses by adults with Duchenne muscular dystrophy: A mixed methods study design
  • Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio)
  • Swallowing, chewing, and speaking: Frequently impaired in oculopharyngeal muscular dystrophy
  • Correlation between quantitative MRI and muscle histopathology in muscle biopsies from healthy controls and patients with IBM, FSHD, and OPMD
  • A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
  • Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists
  • Familial oculo-leptomeningeal transthyretin amyloidosis caused by Leu55Arg mutation
  • Taking a Strohl through history: Putting Strohl back in Guillain-Barré-Strohl syndrome
  • Measuring outcomes in adults with spinal muscular atrophy: Challenges and future directions – Meeting report
JND-cover

Read next...

email-3249062_1280

December 2020 newsletter

The December 2020 issue of the NMD4C newsletter is now available! Topics include: An update from the Canadian Biobanking landscape, an update on our clinical curriculum development, NMD4C’s Annual Investigator Meeting, job opportunities, our recent and upcoming webinars, new research from NMD4C participants and a member spotlight on investigator Dr. Craig Campbell.

Door sign saying "we are hiring"

Job Opportunity | Pediatric Neurologist at CHEO

The NMD4C is excited to share an employment opportunity with CHEO’s growing pediatric neuromuscular team in Ottawa!

CHEO’s Division of Neurology and uOttawa’s Department of Pediatrics  are seeking a Pediatric Neurologist to join their existing six-member team which participates in research and educational activities as well as the clinical inpatient and outpatient services offered by the Division.

Oct_webinar title

CPD-Accredited NMD4C Webinar | Up and Coming Stars in NMD | December 1st

Up and Coming Stars in NMD Muscular Dystrophy Canada (MDC) and the Neuromuscular Disease Network for Canada (NMD4C) are pleased to invite you to a webinar on up and coming stars in NMD. This webinar is primarily targeted at Canadian clinicians, academics and trainees with an interest in neuromuscular disease. NMD4C and MDC are providing…

MDC rapid research rounds

MDC Webinar: Rapid Research Rounds | Muscular Dystrophy Canada 2020 Neuromuscular Conference

Rapid Research Rounds This session is an introduction to the 12 latest MDC funded research awardees. The projects span from early discovery, translational and clinical research as well as address critical gaps in Canada’s ecosystem. All of these projects were selected through competitive medical and scientific peer review process and have recently started. You will…

James comms coordinator

NMD4C Hire New Communications Coordinator

New Communications Coordinator The NMD4C are pleased to announce the hiring of their new communications coordinator, James Davis. James holds a Masters degree in Human Kinetics, and holds previous network creation experience. Through his efforts to help build a national Sport Safety framework, James has a skillset well-suited to the role. He also has research…

email-3249062_1280

November 2020 newsletter

The November 2020 issue of the NMD4C newsletter is now available!

Topics include an introduction to NMD4C’s new communications and administrative coordinator, what KT services and consulting you would like the NMD4C to offer, Muscular Dystrophy Canada’s upcoming virtual neuromuscular conference, our recent and upcoming webinars, new research from NMD4C participants, and a member spotlight on investigator Dr. Bernard Brais.