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Frontiers in Pharmacology|December 15, 2025
Case Report: A pharmacist-led precision therapy framework for managing invasive fungal infection in CSF1R-Related leukoencephalopathy post Allo-HSCTJin Lu, Mengqi Jia, Xinghua Luan, et al.
Frontiers in Genetics|July 28, 2020
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous XanthomatosisJingwen Jiang, Guang Chen, Jingying Wu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 11, 2024
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in ChinaJingying Wu, Xin Cheng, Duxin Ji, et al.
Acta Neurologica Belgica|February 24, 2021
Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion diseaseYuwen Cao, Jingying Wu, Yunhua Yue, et al.
Muscle & Nerve|April 1, 2024
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopeniaKexin Jiao, Nachuan Cheng, Xiao Huan, et al.
Parkinsonism & Related Disorders|November 22, 2019
Novel mutations in the SPAST gene cause hereditary spastic paraplegiaZeyu Zhu, Chao Zhang, Guohua Zhao, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 5, 2024
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic DyskinesiaXiaojun Huang, Xin Fu, Jingying Wu, et al.
Brain : a Journal of Neurology|March 11, 2021
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3Jiaxi Yu, Jianwen Deng, Xueyu Guo, et al.
Annals of Neurology|February 20, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in ChinaXujun Chu, Juan Kang, Jingwen Xu, et al.
Frontiers in Neurology|October 14, 2022
High-risk screening of late-onset Pompe disease: A different early portrait in ChinaKexin Jiao, Jihong Dong, Sushan Luo, et al.
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