Age and sex prevalence estimate of Joubert syndrome in Italy

Por Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola
Publicado no Neurology (2020)

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Por Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Publicado no Brain (2016)

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

Por De Mori, Roberta, Severino, Mariasavina, Mancardi, Maria Margherita, Anello, Danila, Tardivo, Silvia, Biagini, Tommaso, Capra, Valeria, Casella, Antonella, Cereda, Cristina, Copeland, Brett R, Gagliardi, Stella, Gamucci, Alessandra, Ginevrino, Monia, Illi, Barbara, Lorefice, Elisa, Musaev, Damir, Stanley, Valentina, Micalizzi, Alessia, Gleeson, Joseph G, Mazza, Tommaso, Rossi, Andrea, Valente, Enza Maria
Publicado no Brain (2019)

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Por De Mori, Roberta, Romani, Marta, D’Arrigo, Stefano, Zaki, Maha S., Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel, Micalizzi, Alessia, Nuovo, Sara, Illi, Barbara, Chiapparini, Luisa, Di Marcotullio, Lucia, Issa, Mahmoud Y., Anello, Danila, Casella, Antonella, Ginevrino, Monia, Leggins, Autumn Sa’na, Roosing, Susanne, Alfonsi, Romina, Rosati, Jessica, Schot, Rachel, Mancini, Grazia Maria Simonetta, Bertini, Enrico, Dobyns, William B., Mazza, Tommaso, Gleeson, Joseph G., Valente, Enza Maria
Publicado no Am J Hum Genet (2017)