The Neuromuscular Disease Network for Canada

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November 2021 Newsletter

The November 2021 issue of the NMD4C newsletter is now available!

We announce a networking event that is open to all NMD4C members, provide a KT update on their webinar series which began in September, and share the lineup for our third and final installment of the Defeat Duchenne Canadian Conference!  Plus upcoming events and webinars, opportunities, meet the team spotlights, and more!

New research

 

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year 

 

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation

  • Dr. Shahyan Siddiqui, with Dr. Hanns Lochmüller (lead investigator) as a co-author.

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

  • Dr. Demetris Koutalianos, with Dr. Hanns Lochmüller (lead investigator) as a co-author.

 

Assessment of muscular strength and functional capacity in the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

German translation and pre-testing of Consolidated Framework for Implementation Research (CFIR) and Expert Recommendations for Implementing Change (ERIC)

  • Dr. Verena Regauer with Dr. Craig Campbell (investigator) as a co-author

 

Health Care Use, Costs, and Survival Trajectory of Home Mechanical Insufflation-Exsufflation: Health Database Case Control Study

  • Dr. Louise Rose, with Dr. Reshma Amin (investigator) as a co-author

Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression

  • Dr. Eleonora Maino, with Dr. Daria Wojtal (investigator) as a co-author.

 

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

  • Dr. Perry Shieh, with Dr. Craig Campbell (investigator) as a co-author.

Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy

 

MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder

 

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

  • Dr. Irit Hochberg, with Dr. Hugh McMillan (investigator) as a co-author.

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