Proteus syndrome: report of a case with severe brain impairment and fatal course.

por Rizzo, R, Pavone, L, Sorge, G, Parano, E, Baraitser, M
Publicado 1990

Life-threatening neurological syndrome in Down's syndrome.

por Ruggieri, M., Pavone, V., Polizzi, A., Parano, E., Tinè, A.
Publicado 1998

Recurrent peripheral neuropathy in a girl with celiac disease

por POLIZZI, A., FINOCCHIARO, M., PARANO, E., PAVONE, P., MUSUMECI, S., POLIZZI, A.
Publicado 2000

Refinement of the Spinal Muscular Atrophy Locus by Genetic and Physical Mapping

por Wang, C. H., Kleyn, P. W., Vitale, E., Ross, B. M., Lien, L., Xu, J., Carter, T. A., Brzustowicz, L. M., Obici, S., Selig, S., Pavone, L., Parano, E., Penchaszadeh, G. K., Munsat, T., Kunkel, L. M., Gilliam, T. C.
Publicado 1995

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

por Shah, A B, Chernov, I, Zhang, H T, Ross, B M, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenskaya, I A, Annerén, G, Westermark, K, Urrutia, F H, Penchaszadeh, G K, Sternlieb, I, Scheinberg, I H, Gilliam, T C, Petrukhin, K
Publicado 1997