Article
Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2013
Ikeda Masaki, Yonemura Kimie, Kakuda Satoko, Tashiro Yuichi, Fujita Yukio, Takai Eriko, Hashimoto Yukiko, Makioka Kouki, Furuta Natsumi, Ishiguro Koichi, Maruki Risa, Yoshida Jun'ichi, Miyaguchi Osamu, Tsukie Tamao, Kuwano Ryouzou, Yamazaki Tsuneo, Yamaguchi Haruyasu, Amari Masakuni, Takatama Masamitsu, Harigaya Yasuo, Okamoto Koichi
Abstract excerpt
We studied seven cases of Alzheimer's disease (AD). Six of the patients had presenilin 1 (PS1) mutations (PS1AD). Three novel PS1 mutations (T99A, H131R and L219R) and three other missense mutations (M233L, H163R and V272A) were found in the PS1AD group. We measured the levels of phosphorylated t...
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