Clinical and genetic features of a cohort of patients with myoadenilate deaminase deficiency: a new mutation

Steroid-sparing effect of Eculizumab therapy in patients with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis

SMN circ4-2b-3 is expressed in nusinersen treated SMA I children and correlates with motor outcomes

Cardiac risk and myocardial fibrosis assessment with Cardiac Magnetic Resonance in patients with Myotonic Dystrophy

Switching treatment to cipaglucosidase alfa plus miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Extensive next-generation sequencing approaches for the identification of rare genomic structural variants involving the DMD gene