日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

MicroRNA-33 inhibition ameliorates muscular dystrophy by enhancing skeletal muscle regeneration.

抑制MicroRNA-33可增强骨骼肌再生,从而改善肌肉萎缩症

Sowa Naoya, Horie Takahiro, Ide Yuya, Baba Osamu, Kora Kengo, Yoshida Takeshi, Nakamura Yujiro, Matsumura Shigenobu, Matsushita Kazuki, Imanaka Miyako, Zou Fuquan, Kume Eitaro, Kojima Hidenori, Qian Qiuxian, Kimura Kayo, Otsuka Ryotaro, Hara Noriko, Yamasaki Tomohiro, Otani Chiharu, Tsujisaka Yuta, Takaya Tomohide, Nishimura Chika, Watanabe Dai, Hasegawa Koji, Kotera Jun, Oka Kozo, Fujita Ryo, Takemiya Akihiro, Sasaki Takashi, Kasahara Yuuya, Obika Satoshi, Kimura Takeshi, Ono Koh

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes

一名37岁智力障碍男子被发现患有天冬氨酰葡糖胺尿症:对遗传病因诊断的启示

Kouhashi, Mutsuo; Yukawa, Kayoko; Yano, Naoko; Hagemeijer, Marne C; Hirata, Shinya; Kambe, Daisuke; Yokoyama, Atsushi; Yoshida, Akira; Kora, Kengo; de Ronde, Corline J; Vrieswijk, Sandrien; van der Meijden, Eric; Yoshida, Takeshi; Yamashita, Hirofumi

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

一例轻度科凯恩综合征,伴有ERCC8基因的新型起始突变缺失变异

Matsuoka, Taro; Yoshida, Takeshi; Kora, Kengo; Yano, Naoko; Taura, Yoshihiro; Nakamura, Takashi; Tozawa, Takenori; Mori, Jun; Chiyonobu, Tomohiro