The Neuromuscular Disease Network for Canada

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May 2021 Newsletter

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

We give updates from our Biobanking working group including a list of Canadian neuromuscular biobanks, an introduction to the new clinical trial coordinator Bonnie Wooten, details about a Canadian Congenital Myotonic Dystrophy trial, a statement in response to high cost drugs for RD, and announce an event in partnership with Jesse's Journey & MDC! Also included are new research from NMD4C participants, and a member spotlight on NMD4C investigator Dr. Kathryn Selby.

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New Research from our Members

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.

  • Denisa Hathazi, with Dr. Hanns Lochmüller (Lead Investigator) as a co-author.

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.

  • Stephan Wenninger, with Dr. Hanns Lochmüller (Lead Investigator) as a co-author.

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.

  • Jonathan Pini, with Dr. Hanns Lochmüller (Lead Investigator) as a co-author.

Autologous Hematopoietic Stem Cell Transplantation for Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

  • Josée Masson-Roy, with Dr. Jodi Warman-Chardon (Investigator) as a co-author.

Accomplishment of instrumental activities of daily living and its relationship with cognitive functions in adults with myotonic dystrophy type 1 childhood phenotype: an exploratory study.

  • Marjolaine Tremblay, with Dr. Cynthia Gagnon (Investigator) as a co-author.

Responsiveness of daytime sleepiness and fatigue scales in myotonic dystrophy type 1.

  • Luc Laberge, with Dr. Cynthia Gagnon (Collaborator) 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.

  • Marie-Pier Roussel, with Dr. Cynthia Gagnon (Investigator) as a co-author.

Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.

  • Catherine Forgues, with Bernard Brais (Investigator) and Dr. Cynthia Gagnon (Collaborator) as co-authors.

The efficacy of neurosurgical intervention on sleep-disordered breathing in pediatric patients with Chiari malformation type I.

  • Giorge Voutsas, with Dr. Reshma Amin (Investigator) as a co-author.

A virtual care innovation for home mechanical ventilation.

  • Reshma Amin (Investigator).

Modification to Neurology Residency Training: The Toronto Neurology COVID-19 Pandemic Experience.

  • Ryan Muir, with Dr. Aaron Izenberg (Collaborator) as a co-author.