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Scientific Reports|July 23, 2025
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblastsShingo Ito, Tatsuki Uemura, Ayaka Miyano, et al.Brain & Development|February 15, 2011
Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemiaYu Tsuyusaki, Hiroko Shimbo, Takahito Wada, et al.American Journal of Medical Genetics. Part A|April 23, 2015
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive featuresYukiko Kuroda, Ikuko Ohashi, Takuya Naruto, et al.Pharmaceutical Research|March 4, 2020
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived FibroblastsTatsuki Uemura, Shingo Ito, Takeshi Masuda, et al.Plos Genetics|September 29, 2020
NFIA differentially controls adipogenic and myogenic gene program through distinct pathways to ensure brown and beige adipocyte differentiationYuta Hiraike, Hironori Waki, Kana Miyake, et al.Pediatric Neurology|March 18, 2014
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseTakahito Wada, Marie Reine Haddad, Ling Yi, et al.No to Hattatsu = Brain and Development|April 19, 2013
[An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide]Tadahiro Mitani, Yoshimitsu Ohtsuka, Kei Yamamoto, et al.Cytogenetic and Genome Research|May 28, 2023
Low-Level Germline 48,XYY,+21 Mosaicism Associated with Transient Abnormal Myelopoiesis in a Phenotypically Normal NeonateKenichiro Kobayashi, Atsushi Iwai, Kuniaki Tanaka, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36Shoji Saito, Rie Kawamura, Tomoki Kosho, et al.Nature Medicine|May 23, 2018
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndromeNorifumi Shioda, Yasushi Yabuki, Kouya Yamaguchi, et al.Pageof 8