February 2021 Newsletter

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

Topics include an update from MDC on their Rare Disease Day plans for February 28th, Rare Disease Day events from around the NMD community, and the introduction of the new Opportunities Page on the NMD4C site. Also included are new research from NMD4C participants, and a member spotlight on NMD4C investigator Dr. Daria Wojtal.

 

View the February 2021 newsletter here.

Sign up for future issues of the NMD4C newsletter here.

Muscular Dystrophy Canada Rare Disease Day Update

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New NMD4C Opportunities Page

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Rare Disease Day Around the NMD4C Community

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New Research from our Members

 

Utility of Neuropathy Screening for Wild-Type Transthyretin Amyloidosis Patients

  • Dr. Angela Russell, with Dr. Lawrence Korngut (NMD4C investigator) as a co-author.

12-Month Progression of Motor and Functional Outcomes in Congenital Myotonic Dystrophy

  • Dr. Kellen Quigg, with Dr. Craig Campbell (NMD4C investigator) as a co-author.

Dystonin loss-of-function leads to impaired autophagy-endolysosomal pathway dynamics

  • Dr. Anisha Lynch-Godrei, with Dr. Rashmi Kothary (NMD4C steering committee) as a co-author.

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

  • Dr. Adela Della Marina, with Dr. Hanns Lochmüller (NMD4C lead investigator) as a co-author.

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

  • Dr. Sally Spendiff (NMD4C member) with Dr. Hanns Lochmüller (NMD4C lead investigator) as a co-author.

A Cross-Sectional Study of Nemaline Myopathy

  • Dr. Kimberly Amburgey (NMD4C collaborator) with Dr. James Dowling (NMD4C steering committee member) as a co-author.

Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital

  • Dr. Hugh McMillan (NMD4C investigator) as a co-author.

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

  • Dr. Hanns Lochmüller

Implementing Competency-Based Medical Education in Family Medicine: A Narrative Review of Current Trends in Assessment - PubMed (nih.gov)

  • Dr. Natalia Danilovich with Dr. Craig Campbell (NMD4C investigator) as a co-author.

Volume-assured pressure support mode for noninvasive ventilation: can it improve overnight adherence in children with neuromuscular disease?

  • New publication from Dr. Kanokkarn Sunkonkit with Dr. Reshma Amin (NMD4C Investigator) as a co-author.

Report on the 5th Ottawa International Conference on Neuromuscular Disease & Biology -October 17-19, 2019, Ottawa, Canada

  • Dr. Jodi Warman-Chardon (steering committee) with Dr. Rashmi Kothary (steering committee) as a co-author.