Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population

• Claudia Côté with Dr. Bernard Brais (NMD4C) and Dr. Cynthia Gagnon (NMD4C) as co-authors.

 

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

• Dr. Annabelle Arlt with Dr. Hanns Lochmüller (NMD4C) as a co-author.

 

The Transitions to Long-term In Home Ventilator Engagement Study (Transitions to LIVE): study protocol for a pragmatic randomized controlled trial

• Dr. Reshma Amin (NMD4C)

 

Validation of an Adapted Version of the Glasgow Anxiety Scale for People with Intellectual Disabilities (GAS-ID)

• Dr. Christophe Maïano, with Dr. Cynthia Gagnon (NMD4C) as a co-author.

 

Multifocal acquired demyelinating sensory and motor neuropathy presenting with a unilateral radial neuropathy

• Dr. Jocelyn Zwicker, with Dr. Jodi Warman-Chardon (steering committee) as a co-author.

 

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

• Dr. Matthew Jennings, with Dr. Hanns Lochmüller (NMD4C) as a co-author.

 

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia

• Dr. Tatiana Maroilley, with Dr. Gerald Pfeffer (NMD4C) as a co-author.

 

Validating Automatic Diadochokinesis Analysis Methods Across Dysarthria Severity and Syllable Task in Amyotrophic Lateral Sclerosis

• Dr. Chelsea Tanchip, with Dr. Lawrence Korngut (NMD4C) as a co-author.

 

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

• Dr. Steve Laurie, with Dr. Hanns Lochmüller (NMD4C) as a co-author.

 

CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy

• Dr. James Dowling (NMD4C)

 

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1

• Dr. Nicolas Bélair with Dr. Cynthia Gagnon (NMD4C) and Dr. Élise Duchesne (NMD4C) as co-authors.

 

Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians

• Dr. Jenny Setchell, with Dr. Hugh McMillan (NMD4C) as a co-author.

 

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

• Dr. Deepak Menon, with Dr. Hernan Gonorazky (NMD4C) and Dr. James Dowling (NMD4C) as co-authors.

 

A Case Report of Systemic Intoxication Following Onabotulinum Toxin A Injections Into the Salivary Glands in a Patient With Spinal Muscular Atrophy Type 1

• Dr. Dong Hyun Kim, with Dr. Maryam Oskoui (NMD4C) as a co-author.

 

Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder

• Dr. Christoph Kanzler, with Dr. Bernard Brais (NMD4C) and Dr. Cynthia Gagnon (NMD4C) as co-authors.