Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year 

• Dr. Kristin Kernohan with Drs. Hugh McMillan (investigator), Craig Campbell (investigator), James Dowling (steering committee member), and Hernan Gonorazky (working group member) as co-authors.

 

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

• Dr. Elodie Richard, with Dr. Hanns Lochmüller (lead investigator) as a co-author.

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation

• Dr. Shahyan Siddiqui, with Dr. Hanns Lochmüller (lead investigator) as a co-author.

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

• Dr. Akshata Huddar, with Dr. Hanns Lochmüller (lead investigator) as a co-author.

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

• Dr. Demetris Koutalianos, with Dr. Hanns Lochmüller (lead investigator) 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

• Dr. Marie-Pier Roussel with Dr. Elise Duchesne (working group member) and Dr. Cynthia Gagnon (investigator) as co-authors.

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

• Dr. Isabelle Lessard, with Dr. Bernard Brais (investigator) and Dr. Cynthia Gagnon (investigator) as co-authors.

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

• Dr. Isabelle Lessard, with Dr. Cynthia Gagnon (investigator) and Dr. Elise Duchesne (working group member) as co-authors.

German translation and pre-testing of Consolidated Framework for Implementation Research (CFIR) and Expert Recommendations for Implementing Change (ERIC)

• Dr. Verena Regauer with Dr. Craig Campbell (investigator) as a co-author

 

Health Care Use, Costs, and Survival Trajectory of Home Mechanical Insufflation-Exsufflation: Health Database Case Control Study

• Dr. Louise Rose, with Dr. Reshma Amin (investigator) as a co-author

Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression

• Dr. Eleonora Maino, with Dr. Daria Wojtal (investigator) as a co-author.

 

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

• Dr. Perry Shieh, with Dr. Craig Campbell (investigator) as a co-author.

Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy

• Dr. Maryam Oskoui (investigator) as author.

 

MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder

• Dr. Simon Thebault, with Dr. Jodi Warman-Chardon (steering committee member) as a co-author.

 

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

• Dr. Irit Hochberg, with Dr. Hugh McMillan (investigator) as a co-author.