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Frontiers in Endocrinology|February 6, 2023
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligandsMaki Gau, Ryota Suga, Atsushi Hijikata, et al.
Journal of the Neurological Sciences|February 7, 2018
Targeting the enhanced ER stress response in Marinesco-Sjögren syndromeAyako Kashimada, Setsuko Hasegawa, Takeo Isagai, et al.
Brain & Development|October 11, 2018
Genetic analysis of undiagnosed ataxia-telangiectasia-like disordersAyako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, et al.
Human Cell|November 26, 2016
A mouse model reveals that Mfsd2a is critical for unfolded protein response upon exposure to tunicamycinHiroshi Moritake, Megumi Obara, Yusuke Saito, et al.
Seizure|April 21, 2015
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsyNorimichi Higurashi, Yukitoshi Takahashi, Ayako Kashimada, et al.
The Journal of Pediatrics|May 4, 2024
Stage III Chorioamnionitis is Associated with Reduced Risk of Severe Retinopathy of PrematurityManabu Sugie, Nobutoshi Nawa, Yusuke Noguchi, et al.
Pediatric Neurology|July 6, 2019
Long-Term Evaluation of Low-Dose Betamethasone for Ataxia TelangiectasiaSetsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, et al.
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