Familial infantile spasms and hypsarrhythmia associated with leucodystrophy

Por Bignami, A., Maccagnani, F., Zappella, M., Tingey, A. H.
Publicado em 1966

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Por Scala, E, Ariani, F, Mari, F, Caselli, R, Pescucci, C, Longo, I, Meloni, I, Giachino, D, Bruttini, M, Hayek, G, Zappella, M, Renieri, A
Publicado em 2005

Rett syndrome: a wide clinical and autonomic picture

Por Pini, G., Bigoni, S., Congiu, L., Romanelli, A. M., Scusa, M. F., Di Marco, P., Benincasa, A., Morescalchi, P., Ferlini, A., Bianchi, F., Tropea, D., Zappella, M.
Publicado no Orphanet J Rare Dis (2016)

Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

Por Zannolli, R, Micheli, V, Mazzei, M, Sacco, P, Piomboni, P, Bruni, E, Miracco, C, de Santi, M M, Terrosi, V, Volterrani, L, Pellegrini, L, Livi, W, Lucani, B, Gonnelli, S, Burlina, A, Jacomelli, G, Macucci, F, Pucci, L, Fimiani, M, Swift, J, Zappella, M, Morgese, G
Publicado em 2003