Two novel heterozygous variants in ATP1A3 cause movement disorders

por Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo
Publicado 2022

DOC2B: A Novel Syntaxin-4 Binding Protein Mediating Insulin-Regulated GLUT4 Vesicle Fusion in Adipocytes

por Fukuda, Naofumi, Emoto, Masahiro, Nakamori, Yoshitaka, Taguchi, Akihiko, Miyamoto, Sachiko, Uraki, Shinsuke, Oka, Yoshitomo, Tanizawa, Yukio
Publicado 2009

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

por Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo
Publicado 2021

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

por Miyamoto, Sachiko, Nakashima, Mitsuko, Ohashi, Tsukasa, Hiraide, Takuya, Kurosawa, Kenji, Yamamoto, Toshiyuki, Takanashi, Junichi, Osaka, Hitoshi, Inoue, Ken, Miyazaki, Takehiro, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo
Publicado 2019

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

por Kashiki, Hitoshi, Li, Heng, Miyamoto, Sachiko, Ueno, Hiroe, Tsurusaki, Yoshinori, Ikeda, Chizuru, Kurata, Hirofumi, Okada, Takumi, Shimazu, Tomoyuki, Imamura, Hoseki, Enomoto, Yumi, Takanashi, Jun-ichi, Kurosawa, Kenji, Saitsu, Hirotomo, Inoue, Ken
Publicado 2020