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

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy

PhenoRareAI:基于表型的罕见神经肌肉疾病(糖原贮积症和脊髓性肌萎缩症)智能诊断

Zhai, Weiqi; Jiao, Kexin; Wang, Ningning; Yu, Liqiang; Huang, Xiaodi; Li, Wenhui; Hu, Chaoping; Chen, Xinyu; Zhu, Bochen; Zhang, Jialong; Chang, Xuechun; Zhong, Huahua; Zhao, Chongbo; Huang, Zhi; Yang, Guangyao; Zhu, Shanfeng; Zhu, Wenhua

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing

从阴影到清晰:结合长读长测序和RNA测序技术,为未确诊的肌营养不良症患者提供全面的变异检测新范式

Zhao, Lei; Pan, Shirang; Hu, Chaoping; Shi, Yiyun; Li, Xihua

Effectiveness and safety of Risdiplam for types 1-3 spinal muscular atrophy in a single center

单中心Risdiplam治疗1-3型脊髓性肌萎缩症的有效性和安全性

Zhu, Xiaomei; Li, Hui; Hu, Chaoping; Wu, Min; Zhou, Shuizhen; Wang, Yi; Li, Wenhui

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

中国胶原蛋白VI相关疾病的临床、病理和遗传谱——一项回顾性观察多中心研究

Hu Chaoping, Shi Yiyun, Zhao Lei, Zhu Wenhua, Jiao Kexin, Yu Lifei, Li Xihua, Wang Yi

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

基于2011年至2021年数据库,对2097例肌营养不良症患者进行综合分析

Zhao, Lei; Shi, Yiyun; Hu, Chaoping; Zhou, Shuizhen; Li, Hui; Zhang, Lifeng; Qian, Chuang; Zhou, Yiyao; Wang, Yi; Li, Xihua

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

对接受诺西那生治疗的脊髓性肌萎缩症患儿进行实验室参数安全性分析

Zhu, Xiaomei; Li, Hui; Hu, Chaoping; Wu, Min; Zhou, Shuizhen; Wang, Yi; Li, Wenhui

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report

脊髓性肌萎缩伴胼胝体发育不全:病例报告

Zhu, Xiaomei; Li, Hui; Hu, Chaoping; Wu, Min; Zhou, Shuizhen; Wang, Yi; Li, Wenhui

Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China

脊髓性肌萎缩症患儿的全面特征和自然病程:一项来自中国的大型回顾性研究

Hu, Chaoping; Li, Xihua; Shi, Yiyun; Zhu, Xiaomei; Zhao, Lei; Li, Wenhui; Zhou, Shuizhen; Wang, Yi

Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature

FOXRED1基因突变所致线粒体脑病的临床和遗传特征:两例中国病例报告及文献复习

Hu, Chaoping; Xu, Qiong; Shen, Jin; Wang, Yi

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

先天性肌强直:中国患者的临床特征和CLCN1基因突变谱

Hu, Chaoping; Shi, Yiyun; Zhao, Lei; Zhou, Shuizhen; Li, Xihua