September 2021 Newsletter

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

We announce a new fellowship funding opportunity for postdoctoral neuromuscular researchers, share a positive funding decisions for a project led by a NMD4C steering committee member, and share details on our role in International myotonic dystrophy Awareness Day. Plus upcoming events and webinars, opportunities meet the team spotlights, and more!

View the September 2021 newsletter here.

Sign up for future issues of the NMD4C newsletter here.

Session Two of Defeat Duchenne Canadian Conference Addressing Standards of Care in Canada this Weekend

NMD4C and MDC Launch Postdoctoral Fellowship Funding Competition

International Myotonic Dystrophy Awareness Day to be Observed September 15th

CIHR Grant Funding for BIND Study: Assessing the Indirect Socio-Economic Burden of Inherited Neuromuscular Diseases

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New Research from our Members

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

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

 

A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project

  • Dr. Aura Cecilia Jimenez-Moreno with Dr. Hanns Lochmüller (lead investigator) as a co-author. 

 

 A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

  • Dr. Alexa Derksen, with Dr. Maryam Oskoui (investigator) as a co-author.

 

Perinatal arterial ischemic stroke and periventricular venous infarction in infants with unilateral cerebral palsy

  • Dr. Melissa Vitagliano with Dr. Maryam Oskoui (investigator) as a co-author. 

 

Informing the development of the Canadian Neurodiversity Platform (iCAN): What is important to parents of children with neurodevelopmental disabilities?

  • Dr. Miriam Gonzalez with Dr. Maryam Oskoui (investigator) as a co-author.  

 

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

  • Dr. Alice Lepelley with Dr. Hugh McMillan (investigator) as a co-author. 

 

Not so Shocking: Electromyography in Pediatrics Remains Feasible and Diagnostically Useful  

  • Dr. Kristina Joyal with Dr. Hugh McMillan (investigator) as a co-author.

 

Pragmatic recommendations for children with medical complexity requiring aerosol-generating medical procedures in school during the COVID-19 pandemic

  • Dr. Rahul Verma, with Dr. Reshma Amin (investigator) as a co-author.  

 

A Burning Success: Ganglionated Plexus Ablation for Paroxysmal Atrial Fibrillation

  • Dr. Reshma Amin (investigator).

 

Tough transitions: Family caregiver experiences with a pediatric long-term ventilation discharge pathway

  • Dr. Jackie Chiang, with Dr. Reshma Amin (investigator) as a co-author. 

Assessing air travel safety in neuromuscular disease: standard versus prolonged hypoxic challenge tests  

  • Dr. Jackie Chiang, with Dr. Reshma Amin (investigator) as a co-author.