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Brain & Development|December 2, 2020
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunctionRie Anzai, Megumi Tsuji, Sumimasa Yamashita, et al.
Congenital Anomalies|November 30, 2004
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFBTomohide Goto, Michihiko Aramaki, Hiroshi Yoshihashi, et al.
Scientific Reports|July 23, 2025
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblastsShingo Ito, Tatsuki Uemura, Ayaka Miyano, et al.
Journal of Medical Genetics|May 24, 2025
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variantsYukiko Kuroda, Koki Nagai, Yasuhiro Kawai, et al.
Human Genome Variation|May 3, 2019
Discordant phenotype caused by CASK mutation in siblings with NF1Hiroaki Murakami, Yuichi Kimura, Yumi Enomoto, 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.
Brain & Development|June 23, 2020
Expanding the phenotype of COL4A1-related disorders-Four novel variantsNaoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, et al.
Brain & Development|July 4, 2016
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibitionKarin Kojima, Rie Anzai, Chihiro Ohba, et al.
Epilepsy Research|February 20, 2022
Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imagingAzusa Ikeda, Moyoko Tomiyasu, Ayako Yamamoto, et al.
Brain & Development|April 3, 2025
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in JapanTamaki Ikegawa, Kana Osada, Azusa Ikeda, et al.
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