The Neuromuscular Disease Network for Canada

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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!

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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.