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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Brain Behav
Prif Awduron: Ishizawa, Keisuke, Mitsufuji, Takashi, Shioda, Kei, Kobayashi, Atsushi, Komori, Takashi, Nakazato, Yoshihiko, Kitamoto, Tetsuyuki, Araki, Nobuo, Yamamoto, Toshimasa, Sasaki, Atsushi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Original Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6192393/
https://ncbi.nlm.nih.gov/pubmed/30240140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1117
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