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MAPT p.V363I mutation: A rare cause of corticobasal degeneration

OBJECTIVE: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associate...

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Detalles Bibliográficos
Autores principales: Ahmed, Sarah, Fairen, Monica Diez, Sabir, Marya S., Pastor, Pau, Ding, Jinhui, Ispierto, Lourdes, Butala, Ankur, Morris, Christopher M., Schulte, Claudia, Gasser, Thomas, Jabbari, Edwin, Pletnikova, Olga, Morris, Huw R., Troncoso, Juan, Gelpi, Ellen, Pantelyat, Alexander, Scholz, Sonja W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659135/
https://www.ncbi.nlm.nih.gov/pubmed/31404212
http://dx.doi.org/10.1212/NXG.0000000000000347