Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Yujin Qu"'
Autor:
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Hui Jiao, Maoti Wei, Xiushan Ge, Fang Song, Yujin Qu
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/c29c24054d1445d3bb2f72bbd6cc5729
Autor:
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Hui Jiao, Maoti Wei, Xiushan Ge, Fang Song, Yujin Qu
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundBiomarkers can be used to assess the severity of spinal muscular atrophy (5q SMA; SMA). Despite their potential, the relationship between biomarkers and clinical outcomes in SMA remains underexplored. This study aimed to assess the associat
Externí odkaz:
https://doaj.org/article/4891f3f47d464ab0b64f3b78ff8f6c73
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA
Autor:
Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang, Shijia OuYang, Xiaoyin Peng, Yuwei Jin, Hong Wang, Fang Song
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e28015- (2024)
Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018. However, clinicians should remain alert to some pitfalls of geneti
Externí odkaz:
https://doaj.org/article/b844da04ae9f4896a4351e47954502f1
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Patients with spinal muscular atrophy (SMA) are at risk of decreased bone mineral density (BMD). The bone health status of Chinese patients with SMA has been poorly studied. We aimed to evaluate the BMD of children with SMA types
Externí odkaz:
https://doaj.org/article/d0c13b9e42b548a8b368b6c40f462e9f
Autor:
Jinli Bai, Yujin Qu, Shijia OuYang, Hui Jiao, Yang Wang, Jingjing Li, Wenchen Huang, Yunlong Zhao, Xiaoyin Peng, Depeng Wang, Yuwei Jin, Hong Wang, Fang Song
Publikováno v:
Neuromuscular Disorders. 33:382-390
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddba1aaf817239c5d7d201b2b83b809e
https://doi.org/10.1016/j.nmd.2023.03.001
https://doi.org/10.1016/j.nmd.2023.03.001
Autor:
Jia, Wang, Jinli, Bai, Shijia, OuYang, Hong, Wang, Yuwei, Jin, Xiaoyin, Peng, Xiushan, Ge, Hui, Jiao, Jizhen, Zou, Cai, He, Ping, Xiao, Fang, Song, Yujin, Qu
Publikováno v:
Human Molecular Genetics. 31:1635-1650
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by homozygous deletions or mutations in survival motor neuron gene 1 (SMN1). Currently, the primary therapeutic strategy for SMA is to increase the level of SMN via
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9971bb3527b484100f31ecdbf36176ea
https://doi.org/10.1093/hmg/ddab350
https://doi.org/10.1093/hmg/ddab350
Autor:
JINLI BAI1, YUJIN QU1, YANYAN CAO1, YAN LI1, WENHUI ZHANG1, YUWEI JIN1, HONG WANG1, FANG SONG1 songf_558@263.net
Publikováno v:
Molecular Medicine Reports. 2016, Vol. 13 Issue 2, p1135-1140. 6p.
Publikováno v:
BMC Musculoskeletal Disorders
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-9 (2021)
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-9 (2021)
Background Patients with spinal muscular atrophy (SMA) are at risk of decreased bone mineral density (BMD). The bone health status of Chinese patients with SMA has been poorly studied. We aimed to evaluate the BMD of children with SMA types 2 and 3 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ab6c5709eb0f7a07f7bbcd2384f83b
https://doi.org/10.21203/rs.3.rs-150042/v1
https://doi.org/10.21203/rs.3.rs-150042/v1
Autor:
JinLi, Bai, YuJin, Qu, Fang, Song, YanYan, Cao, Miaomiao, Cheng, Jia, Wang, YuWei, Jin, Hong, Wang
Publikováno v:
Journal of molecular neuroscience : MN. 71(1)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or subtle variant of survival motor neuron 1 (SMN1) gene. By multiplex ligation-dependent probe amplification, genomic sequencing, and T-A cloning on cD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22fede54b4a796146483d702c80e1029
https://pubmed.ncbi.nlm.nih.gov/32812185
https://pubmed.ncbi.nlm.nih.gov/32812185