Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France

A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation

Published in Int J Circumpolar Health. Hjaltason H et al.…

Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy

Published in Ther Adv Rare Dis. Mitha A et al.…

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy

Published in Health Inf Sci Syst. Zhai W et al.…

The post-pandemic pivot: mRNA therapeutics enter the chronic rare disease arena

Published in Mol Ther Nucleic Acids. Giangrande PH et al.…