The new variant c.458C>G in CHRNA1 causes late-onset post-synaptic slow-channel congenital myasthenic syndrome Josef Finsterer; Fulvio A. Scorza; Carla A. Scorza; Ana C. Fiorini;

Hearing loss and small and large fibre neuropathy associated with the heterozygous variants c.20A>T in HBB and del-3.7 in HBA Josef Finsterer; Fulvio A. Scorza; Carla A. Scorza; Ana C. Fiorini;

Non-functioning pituitary macroadenoma manifesting as a cervical syndrome Carla A. Scorza; Ana C. Fiorini; Josef Finsterer; Fulvio A. Scorza;