May 2022 Newsletter

The May 2022 issue of the NMD4C newsletter is now available!

Read about the upcoming poster presentation from the knowledge translation team, the upcoming neuromuscular conferences taking place in Canada for 2022, and the most recent early-career blog from NMD4C and MDC fellow Dr. Emanuela Pannia! Plus community events, new research, member spotlights and more!

New Research from NMD4C Participants

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

  • Dr. Marieke van der Knoop, with Dr. Hanns Lochmüller (NMD4C) as a co-author.


Survival motor neuron protein deficiency alters microglia reactivity

  • Dr. Guzal Khayrullina, with Dr. Rashmi Kothary (NMD4C) as a co-author.


Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

  • Dr. Michela Guglieri, with Drs. Craig Campbell and Hugh McMillan (NMD4C) as co-authors.


Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1

  • Dr. Luc Laberge, with Dr. Cynthia Gagnon as a co-author.


Serum miRNAs as biomarkers for the rare types of muscular dystrophy

  • Dr. Andrie Koutsoulidou, with Dr. Hanns Lochmüller (NMD4C) as a co-author.


Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

  • Dr. Andrea Kakouri, with Dr. Hanns Lochmüller (NMD4C) as a co-author.


Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

  • Dr. Sarah Stephenson, with Dr. James Dowling (NMD4C) as a co-author.

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