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Exploring new therapeutics for Duchenne muscular dystrophy and related cardiomyopathy

Rare diseases clinical trials toolbox - public resources and main considerations to set up a clinical trial on medicinal products for humans in Europe

The novel SCD MED ALERT mHealth app: empowering patients with sickle cell disease

Lymphedema and erysipelas in patients with classic Fabry disease: a retrospective case series

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