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No to Hattatsu = Brain and Development|June 6, 2008
[Clinical study on temporal lobe epilepsy in childhood caused by temporal lobe space-occupying lesions]Mariko Matsuura, Hirokazu Oguni, Makoto Funatsuka, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndromeYumi Takahashi, Kana Hosoki, Masafumi Matsushita, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 9, 2013
Two cases of precocious puberty associated with hypothalamic hamartomaShigeru Nagaki, Eiko Otsuka, Kumiko Miwa, et al.
Brain & Development|June 16, 2006
TRH therapy in a patient with juvenile Alexander diseaseKeiko Ishigaki, Yasushi Ito, Yukio Sawaishi, et al.
Brain & Development|May 3, 2005
Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in JapanYasushi Ito, Elena Gertsen, Hirokazu Oguni, et al.
No to Hattatsu = Brain and Development|September 17, 2005
[Clinical and electroencephalogram study of 5 children with hypothalamic hamartoma]Eiko Otsuka, Hirokazu Oguni, Makoto Funatsuka, et al.
Brain & Development|August 6, 2018
Renal dysfunction is rare in Fukuyama congenital muscular dystrophyKeiko Ishigaki, Ikuko Kato, Terumi Murakami, et al.
American Journal of Human Genetics|July 5, 2014
Aicardi-Goutières syndrome is caused by IFIH1 mutationsHirotsugu Oda, Kenji Nakagawa, Junya Abe, et al.
American Journal of Medical Genetics. Part A|May 28, 2021
HECW2-related disorder in four Japanese patientsTomoe Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto, et al.
Rheumatology (Oxford, England)|December 5, 2013
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort studyJunya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, et al.
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