New Research from our Members

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype

• Dr Kiran Polavarapu (member) with Dr Hanns Lochmüller (Lead Investigator) as a co-author.

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review

• Dr Erik Landfeldt, with Dr Hugh McMillan (Investigator) and Dr Hanns Lochmüller (Lead Investigator) as co-authors

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

• Dr Hugh McMillan (Investigator) with Dr Jodi Warman-Chardon (Steering Committee) as a co-author.

Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses

• Dr. Jim Dowling (Steering Committee).

Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study

• Dr. William Beauchesne with Dr. Cynthia Gagnon (Steering Committee) and Dr. Valérie Gagné-Ouellet (Collaborator) as co-authors.

A data-driven framework for selecting and validating digital health metrics: use-case in neurological sensorimotor impairments

• Dr Christoph Kanzler, with Dr Cynthia Gagnon (Steering Committee) as a co-author

Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy

• Dr. Maryam Oskoui (NMD4C Investigator)

Congenital central hypoventilation syndrome and ventilatory responses during cardiopulmonary exercise testing

• Dr. Kanokkarn Sunkonkit, with Dr. Reshma Amin (Investigator) as a co-author.

Standards for Substantive Equivalency between Continuing Professional Development/Continuing Medical Education (CPD/CME) Accreditation Systems

• Dr. Kate Regnier, with Dr. Craig Campbell (Investigator) as a co-author

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

• Dr Stacy Rudnicki, with Dr Craig Campbell (Investigator) and Dr Maryam Oskoui (Investigator) as co-authors.

Cerebral atrophy in amyotrophic lateral sclerosis parallels the pathological distribution of TDP43

• Dr Mahsa Dadar, with Dr Lawrence Korngut (Investigator) as a co-author.