Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

por Takahashi, Satoru, Takeguchi, Ryo, Kuroda, Mami, Tanaka, Ryosuke
Publicado 2020

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

por Akaba, Yuichi, Takeguchi, Ryo, Tanaka, Ryosuke, Takahashi, Satoru
Publicado 2021

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

por Akaba, Yuichi, Takahashi, Satoru, Takeguchi, Ryo, Tanaka, Ryosuke, Nabatame, Shin, Saitsu, Hirotomo, Matsumoto, Naomichi
Publicado 2021

Novel NARS2 variant causing leigh syndrome with normal lactate levels

por Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Publicado 2022

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

por Takeguchi, Ryo, Takahashi, Satoru, Kuroda, Mami, Tanaka, Ryosuke, Suzuki, Nao, Tomonoh, Yuko, Ihara, Yukiko, Sugiyama, Nobuyoshi, Itoh, Masayuki
Publicado 2019

A novel HECW2 variant in an infant with congenital long QT syndrome

por Imanishi, Rina, Nakau, Kouichi, Shimada, Sorachi, Oka, Hideharu, Takeguchi, Ryo, Tanaka, Ryosuke, Sugiyama, Tatsutoshi, Nii, Mitsumaro, Okamoto, Toshio, Nagaya, Ken, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Publicado 2023