Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

• Dr. Marieke van der Knoop, with Dr. Hanns Lochmüller (NMD4C) as a co-author.

Survival motor neuron protein deficiency alters microglia reactivity

• Dr. Guzal Khayrullina, with Dr. Rashmi Kothary (NMD4C) as a co-author.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

• Dr. Michela Guglieri, with Drs. Craig Campbell and Hugh McMillan (NMD4C) as co-authors.

Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1

• Dr. Luc Laberge, with Dr. Cynthia Gagnon as a co-author.

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

• Dr. Andrie Koutsoulidou, with Dr. Hanns Lochmüller (NMD4C) as a co-author.

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

• Dr. Andrea Kakouri, with Dr. Hanns Lochmüller (NMD4C) as a co-author.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

• Dr. Sarah Stephenson, with Dr. James Dowling (NMD4C) as a co-author.