Publications by authors named "Chaoping Hu"

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From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.
Lei Zhao, Shirang Pan, Chaoping Hu, Yiyun Shi, Xihua Li

Comput Struct Biotechnol J· December 2025

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Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Jing Guan, Min Zhang, Chaoping Hu, Lei Zhao, Linmei Zhang, Xihua Li, Shuizhen Zhou, Wenhui Li

Brain Dev· October 2025

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Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.
Xingyu Xia, Kexin Jiao, Chaoping Hu, Nachuan Cheng, Mingshi Gao, Bochen Zhu, Wenhua Zhu

J Hum Genet· September 2025

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Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li

Neurol Sci· August 2025

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4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.
Xingyu Xia, Nachuan Cheng, Yiqi Liu, Dongyue Yue, Mingshi Gao, Chaoping Hu, Bochen Zhu, Xuechun Chang, Minghui Zeng, Wenhua Zhu

J Mol Diagn· May 2025

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Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Chaoping Hu, Yiyun Shi, Lei Zhao, Wenhua Zhu, Kexin Jiao, Xihua Li

Hum Mutat· April 2025

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Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism.
Lei Zhao, Chaoping Hu, Shirang Pan, Depeng Wang, Yi Wang, Xihua Li

Neuromuscul Disord· December 2024

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Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Lei Zhao, Yiyun Shi, Chaoping Hu, Shuizhen Zhou, Hui Li, Chuang Qian, Xihua Li

Orphanet J Rare Dis· August 2024

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Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Wenhui Li

BMC Pediatr· July 2024

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PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
Zhixu Fang, Chaoping Hu, Shuizhen Zhou, Lifei Yu

Neurol Sci· May 2024

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Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Wenhui Li

BMC Neurol· February 2023

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Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.
Chaoping Hu, Xihua Li, Yiyun Shi, Xiaomei Zhu, Lei Zhao, Wenhui Li, Shuizhen Zhou

Front Neurol· December 2022

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Maternal secretin ameliorates obesity by promoting white adipose tissue browning in offspring.
Lamei Xue, Juan Sun, Jinxin Liu, Chaoping Hu, Dandan Wu, Xihua Li

EMBO Rep· July 2022

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Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.
Yuqing Shi, Guohong Chen, Dan Sun, Chaoping Hu, Zhimei Liu, Weihua Zhang

Mitochondrion· January 2022

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Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li

Front Pediatr· November 2021

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Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to Mutations: Two Chinese Case Reports and a Review of the Literature.
Chaoping Hu, Qiong Xu, Jin Shen, Yi Wang

Front Neurol· February 2021

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Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
Chaoping Hu, Xihua Li, Lei Zhao, Yiyun Shi, Shuizhen Zhou

Front Neurol· September 2020

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Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.
Chaoping Hu, Xihua Li, Lei Zhao, Yiyun Shi, Shuizhen Zhou

Eur J Med Genet· August 2020

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Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China.
Chaoping Hu, Xihua Li

Gene Ther· August 2020

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Triazol: a privileged scaffold for proteolysis targeting chimeras.
Li-Wen Xia, Meng-Yu Ba, Wei Liu, Weyland Cheng, Chao-Ping Hu

Future Med Chem· November 2019

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Concise synthesis of 2-methoxyestradiol from 17β-estradiol through the C(sp)-H hydroxylation.
Meng-Yu Ba, Li-Wen Xia, Hong-Liang Li, Ying-Ge Wang, Ya-Nan Chu, Chao-Ping Hu, Hua Yang

Steroids· June 2019

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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Xihua Li, Lei Zhao, Shuizhen Zhou, Chaoping Hu, Yiyun Shi, Hui Li

Orphanet J Rare Dis· January 2015

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