Cargando…
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...
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 |
Ejemplares similares
-
MAPT
‐Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report
por: Cullinane, Patrick W., et al.
Publicado: (2023) -
Progressive Supranuclear Palsy and Corticobasal Degeneration: Pathophysiology and Treatment Options
por: Lamb, Ruth, et al.
Publicado: (2016) -
MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features
por: Valentino, Rebecca R., et al.
Publicado: (2020) -
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates
por: Ling, Helen, et al.
Publicado: (2020) -
Corticobasal degeneration and corticobasal syndrome: A review
por: Constantinides, Vasilios C., et al.
Publicado: (2019)