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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.

 

Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis

• Dr. Eduardo Estephan with Dr. Hanns Lochmüller (lead investigator) as a co-author.

 

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

• Dr. Semra Hiz Kurul with Dr. Hanns Lochmüller (lead investigator) as a co-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.

 

X-linked myotubular myopathy

• Dr. Michael Lawlor with Dr. James Dowling (steering committee) as a co-author.

 

Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia

• Dr. Catherine Forgues, with NMD4C investigators Dr. Cynthia Gagnon & Dr. Bernard Brais as co-authors. 

 

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

• Dr. William Beauchesne with Dr. Cynthia Gagnon (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.

 

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.

 

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.

 

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

• Dr. Maryam Oskoui (investigator).

 

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.