Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3
Ouyang, Shijia, Peng, Xiaoyin, Huang, Wenchen, Bai, Jinli, Wang, Hong, Jin, Yuwei, Jiao, Hui, Wei, Maoti, Ge, Xiushan, Song, Fang, Qu, Yujin
Published in Frontiers in neurology (02.09.2024)
Published in Frontiers in neurology (02.09.2024)
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Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA
Qu, Yujin, Bai, Jinli, Jiao, Hui, Qi, Hong, Huang, Wenchen, OuYang, Shijia, Peng, Xiaoyin, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Heliyon (30.03.2024)
Published in Heliyon (30.03.2024)
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Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model
Wang, Jia, Bai, Jinli, OuYang, Shijia, Wang, Hong, Jin, Yuwei, Peng, Xiaoyin, Ge, Xiushan, Jiao, Hui, Zou, Jizhen, He, Cai, Xiao, Ping, Song, Fang, Qu, Yujin
Published in Human molecular genetics (19.05.2022)
Published in Human molecular genetics (19.05.2022)
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Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
Bai, Jinli, Qu, Yujin, OuYang, Shijia, Jiao, Hui, Wang, Yang, Li, Jingjing, Huang, Wenchen, Zhao, Yunlong, Peng, Xiaoyin, Wang, Depeng, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Neuromuscular disorders : NMD (01.05.2023)
Published in Neuromuscular disorders : NMD (01.05.2023)
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