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An autopsy report of three kindred in a Gerstmann–Sträussler–Scheinker disease P105L family with a special reference to prion protein, tau, and beta‐amyloid

INTRODUCTION: Gerstmann–Sträussler–Scheinker disease P105L (GSS105) is a rare variant of GSS caused by a point mutation of the prion protein (PrP) gene at codon 105 (proline to leucine substitution). It is clinically characterized by spastic paraparesis and dementia and histopathologically defined b...

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Detalles Bibliográficos
Autores principales: Ishizawa, Keisuke, Mitsufuji, Takashi, Shioda, Kei, Kobayashi, Atsushi, Komori, Takashi, Nakazato, Yoshihiko, Kitamoto, Tetsuyuki, Araki, Nobuo, Yamamoto, Toshimasa, Sasaki, Atsushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192393/
https://www.ncbi.nlm.nih.gov/pubmed/30240140
http://dx.doi.org/10.1002/brb3.1117