S. Nassani

Orbital pseudotumor as a presenting sign of temporal arteritis.

E. Favale, L. Cocito, T. Arcuri, 1995, Clinical and experimental rheumatology.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

H. Hakonarson, Yiran Guo, F. Santorelli, 2014, Journal of Neurology.

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients

N. Archidiacono, M. Rocchi, E. Bellone, 1995, Journal of Neurology.

Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion

E. Bellone, G. Mancardi, A. Schenone, 1995, Journal of the Neurological Sciences.