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

Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction is observed in many neurodegenerative or metabolic disorders, congenital malformations are rare. In particular, dysplastic basal ganglia are...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776115/
https://www.ncbi.nlm.nih.gov/pubmed/31412107
http://dx.doi.org/10.1093/brain/awz247

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