September 2022 Newsletter

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

Read about the launch of the clinical and postdoctoral research fellowship funding competition, the National Neuromuscular Lecture Series for fellows, and the call for testers for the imPORTND patient-oriented research training platform! Plus community events, new research, member spotlights and more!

New Research from NMD4C Participants

Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective

  • Dr. Thomas Klockgether, with Dr. Bernard Brais (NMD4C) as a co-author.


2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders

  • Dr. William Groh, with Dr. Hugh McMillan (NMD4C) as a co-author.


Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices

  • Dr. Kristiana Salmon, with Dr. Aaron Izenberg (NMD4C) as a co-author.


MicroRNAs in oligodendrocyte development and remyelination

  • Dr. Clarissa Ngo, with Dr. Rashmi Kothary (NMD4C) as a co-author.


Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice

  • Isabelle Fisette-Paulhus, with Dr. Cynthia Gagnon (NMD4C) as a co-author.


Curing SMA: Are we there yet?

  • Aoife Reilly, with Dr. Rashmi Kothary (NMD4C) as a co-author.


Gold Coast Criteria Expand Clinical Trial Eligibility in Amyotrophic Lateral Sclerosis

  • Dr. Gordon Jewett, with Drs. Victoria Hodgkinson & Lawrence Korngut (#NMD4C) as co-authors.


Natural history of a mouse model of X-linked myotubular myopathy

  • Dr. Ege Sarikaya, with Drs Hernan Gonorazky & James Dowling (NMD4C) as co-authors.


INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy

  • Dr. James Dowling (NMD4C)


Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

  • Dr. Yukari Endo, with Dr. James Dowling (NMD4C) as a co-author.


Pharmacological and exercise-induced activation of AMPK as emerging therapies for myotonic dystrophy type 1 patients

  • Dr. Aymeric Ravel-Chapuis, with Dr. Elise Duchesne (NMD4C) as a co-author.


Functional alterations in large-scale resting-state networks of amyotrophic lateral sclerosis: A multi-site study across Canada and the United States

  • Dr. Komal Bharti, with Dr. Lawrence Korngut (NMD4C) as a co-author.


Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

  • Dr. Kevin Strauss, with Dr. Hugh McMillan (NMD4C) as a co-author.


Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1

  • Dr. Georgia Besant, with Dr. Jodi Warman Chardon & Dr. Hanns Lochmüller (NMD4C) as co-authors.

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