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

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study

利司他林治疗日本脊髓性肌萎缩症患者的安全性:一项上市后监测研究的12个月中期分析

Saito, Kayoko; Saito, Toshio; Arakawa, Reiko; Takeshima, Yasuhiro; Nishio, Hisahide; Ishikawa, Yuka; Katsuno, Masahisa; Tsumuraya, Takahiko; Kawata, Hiromitsu; Miyano, Yuki; Komaki, Hirofumi

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III

大腿肌肉总肌内脂肪分数作为预测纽西纳生治疗儿童脊髓性肌萎缩症II型和III型疗效的指标

Iketani, Kiiko; Awano, Hiroyuki; Hashimura, Hiromi; Sonehara, Shoko; Hanafusa, Hiroaki; Nambu, Yoshinori; Nishio, Hisahide; Nozu, Kandai; Bo, Ryosuke

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3

尿肌联蛋白的N端片段并非钙蛋白酶3降解的产物

Nambu, Yoshinori; Matsumura, Tsuyoshi; Machida, Kyoka; Tsutsumi, Rie; Hata, Shoji; Shinkai-Ouchi, Fumiko; Ono, Yasuko; Osawa, Kayo; Shirakawa, Taku; Bo, Ryosuke; Nishio, Hisahide; Sakaue, Hiroshi; Awano, Hiroyuki; Matsuo, Masafumi

Genetic and Molecular Insights into the Links Between Heat Stroke, Alzheimer's Disease, and Down Syndrome: A Mini-Review

遗传和分子层面揭示中暑、阿尔茨海默病和唐氏综合征之间的联系:简要综述

Nishio, Hisahide; Negishi, Hirokuni; Awano, Hiroyuki; Oba, Jumpei

Editorial: Special Issue "Genetic Newborn Screening"

社论:特刊“新生儿基因筛查”

Nishio, Hisahide; Awano, Hiroyuki

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

日本纯合SMN2缺失的发生率:SMN2引物与SMN1序列的交叉反应导致实时PCR筛查出现假阴性

Sakima Makoto, Bouike Yoshihiro, Wada Shin-Ichi, Nakamae Masami, Noguchi Yoriko, Bo Ryosuke, Awano Hiroyuki, Oba Jumpei, Nishio Hisahide

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

反义寡核苷酸体外成功跳过了患有 β-螺旋桨蛋白相关神经变性患者的异常伪外显子

Mamiko Yamada #, Kazuhiro Maeta #, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients

儿童脊髓性肌萎缩症(5q-和非5q-)的临床和遗传特征

Nishio, Hisahide; Niba, Emma Tabe Eko; Saito, Toshio; Okamoto, Kentaro; Lee, Tomoko; Takeshima, Yasuhiro; Awano, Hiroyuki; Lai, Poh-San

Relationship between functional independence measure scores and timed up-and-go time in postoperative elderly patients with vertebral and hip fractures

椎体和髋部骨折术后老年患者功能独立性评估评分与计时起立行走时间的关系

Ashida, Daisuke; Nishio, Hisahide; Fujiwara, Mizuho; Iwai, Nobuhiko

A novel splice variant of the human MSTN gene encodes a myostatin-specific myostatin inhibitor

人类 MSTN 基因的新型剪接变体编码肌生长抑制素特异性肌生长抑制素抑制剂

Kazuhiro Maeta, Manal Farea, Hisahide Nishio, Masafumi Matsuo