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Psychiatric Manifestations of ATP13A2 Mutations

BACKGROUND: Biallelic mutations in ATP13A2 were identified as the cause of Kufor‐Rakeb disease, a pallido‐pyramidal syndrome characterized by young‐onset dystonia–parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but p...

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Detalles Bibliográficos
Autores principales: Balint, Bettina, Damasio, Joana, Magrinelli, Francesca, Guerreiro, Rita, Bras, Jose, Bhatia, Kailash P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533993/
https://www.ncbi.nlm.nih.gov/pubmed/33033738
http://dx.doi.org/10.1002/mdc3.13034