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Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.Journal of Human Genetics|February 16, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.Journal of Human Genetics|June 16, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.International Journal of Hematology|May 1, 2025
A case of acute promyelocytic leukemia complicated by mitochondrial diseaseYukari Sakurai, Masakatsu Yanagimachi, Mieko Ito, et al.Human Genome Variation|October 5, 2020
Nonsense variants of STAG2 result in distinct congenital anomaliesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.Neuromuscular Disorders : NMD|June 3, 2015
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular spaceSatoshi Iwata, Mikako Ito, Tomohiko Nakata, et al.Brain & Development|May 4, 2020
Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017Mariko Kasai, Akiko Shibata, Ai Hoshino, et al.Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.Neurology|March 29, 2013
ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticusMayu Shinohara, Makiko Saitoh, Daisuke Nishizawa, et al.Brain & Development|August 24, 2014
Diffusion-weighted MRI for early diagnosis of neonatal herpes simplex encephalitisTohru Okanishi, Hiroyuki Yamamoto, Takatoshi Hosokawa, et al.Pageof 6