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Pediatrics International : Official Journal of the Japan Pediatric Society|February 27, 2021
Treatment outcomes for infantile spasms in Japanese children with Down syndromeSatomi Nishimoto, Shuichi Shimakawa, Miho Fukui, et al.
Brain & Development|February 21, 2021
A nation-wide survey of Japanese pediatric MOG antibody-associated diseasesKohji Azumagawa, Ichiro Nakashima, Kimihiko Kaneko, et al.
Brain & Development|June 25, 2013
Clinico-radiological spectrum of reversible splenial lesions in childrenMitsuru Kashiwagi, Takuya Tanabe, Shuichi Shimakawa, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutationsJun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, et al.
Genes|February 25, 2022
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis PigmentosaNobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, et al.
Annals of Neurology|October 7, 2004
Actin mutations are one cause of congenital fibre type disproportionNigel G Laing, Nigel F Clarke, Danielle E Dye, et al.
Brain : a Journal of Neurology|February 5, 2019
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophyMasayuki Itoh, Hongmei Dai, Shin-Ichi Horike, et al.
Epilepsy Research|May 29, 2013
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacyNorimichi Higurashi, Mai Nakamura, Misaki Sugai, et al.
Brain & Development|August 31, 2014
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complicationsShino Shimada, Keiko Shimojima, Nobuhiko Okamoto, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
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