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Mutation ∆K281 in MAPT causes Pick’s disease

Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclus...

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Detalles Bibliográficos
Autores principales: Schweighauser, Manuel, Garringer, Holly J., Klingstedt, Therése, Nilsson, K. Peter R., Masuda-Suzukake, Masami, Murrell, Jill R., Risacher, Shannon L., Vidal, Ruben, Scheres, Sjors H. W., Goedert, Michel, Ghetti, Bernardino, Newell, Kathy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329087/
https://www.ncbi.nlm.nih.gov/pubmed/37351604
http://dx.doi.org/10.1007/s00401-023-02598-6

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