A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease

por Yasuda, Rei, Yoshida, Tomokatsu, Mizuta, Ikuko, Nakagawa, Masanori, Mizuno, Toshiki
Publicado 2017

An autopsy case of TAFRO syndrome with multiple cerebral infarctions caused by small vessel pathology

por Matsuoka, Chihiro, Takahashi, Hisashi, Yasuda, Rei, Ashida, Shinji, Tanaka, Eijirou, Sonobe, Yuta, Morinaga, Yukiko, Kondo, Masaki, Mizuno, Toshiki
Publicado 2022

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

por Nishii, Yo-suke, Noto, Yu-ichi, Yasuda, Rei, Kitaoji, Takamasa, Ashida, Shinji, Tanaka, Eijirou, Minami, Narihiro, Nishino, Ichizo, Mizuno, Toshiki
Publicado 2021

Towards genomic database of Alexander disease to identify variations modifying disease phenotype

por Yasuda, Rei, Nakano, Masakazu, Yoshida, Tomokatsu, Sato, Ryuichi, Adachi, Hiroko, Tokuda, Yuichi, Mizuta, Ikuko, Saito, Kozo, Matsuura, Jun, Nakagawa, Masanori, Tashiro, Kei, Mizuno, Toshiki
Publicado 2019

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation

por Yasuda, Rei, Yoshida, Tomokatsu, Mizuta, Ikuko, Watanabe, Masashi, Nakano, Masakazu, Sato, Ryuichi, Tokuda, Yuichi, Omi, Natsue, Sakai, Norio, Nakagawa, Masanori, Tashiro, Kei, Mizuno, Toshiki
Publicado 2020