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The necessity for skeletal muscle contractile assays to assess treatment efficacy in DMD

Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases

Long-term impact of corticosteroid therapy on adult height in juvenile myasthenia gravis patients: a retrospective multicenter cohort study

Fabry disease in women: beyond the role of “carriers”

Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series

The genotype and phenotype correlation of Prader-Willi syndrome

First, do no harm: the role of preclinical animal models in predicting adverse events in gene therapy clinical trials for Duchenne muscular dystrophy and X-Linked myotubular myopathy

Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review

Special issue on Fabry disease - book 1: editorial

A landscape map of the key global rare disease organizations

The complexity of funding rare disease research: an IRDiRC assessment of the landscape