Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yiyan Ruan"'
Autor:
Yuyi Chen, Dongling Yang, Xuelin Huang, Juntan Feng, Qingqing Zhao, Huixian Huang, Lushi Liang, Xinxin Zhang, Yiyan Ruan
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundSpinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease. Nusinersen is the first disease modifying drug approved to treat patients with SMA. Our study aimed to evaluate the efficacy of nusinersen treatment on motor func
Externí odkaz:
https://doaj.org/article/16b2efad4a1b4a9d9b78ac25be0b1340
Autor:
Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Ruan
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 33-40 (2024)
Abstract Nitrogen permease regulator‐like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3‐related epilepsy is a range of epilepsy‐associated syndromes, such as familial focal epilepsy with varia
Externí odkaz:
https://doaj.org/article/5790d5db9a644b9a8d0db66a63ef45f3
Autor:
Yueyun Lan, Sheng Yi, Mengting Li, Jinqiu Wang, Qi Yang, Shang Yi, Fei Chen, Limei Huang, Yiyan Ruan, Yiping Shen, Jingsi Luo, Zailong Qin
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Christianson syndrome (CS) is an X-linked neurodevelopmental syndrome characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay. Pathogenic mutations in the SLC9A6 gene, which encodes the Na+/H+ exchanger protein mem
Externí odkaz:
https://doaj.org/article/e96c94012e7b4a9e9db46a5007677f3e
Publikováno v:
Journal of Paediatrics and Child Health. 59:431-438
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7d98f6e00a71b1712cfaad3760a1fd7
https://doi.org/10.1111/jpc.16340
https://doi.org/10.1111/jpc.16340
Autor:
Hezhi Fang, Xiaomin Liu, Yiyan Ruan, Xiangju Geng, Yongguo Yu, Shang Yi, Yiping Shen, Jiuwei Li, Fang Fang, Haiyan Wei, Xiujuan Wei, Wei Yang, Xianglai Ye, Xuelin Huang, Zailong Qin, Xiantao Ye, Jianxin Lyu, Yuhua Li, Yu Sun, Yongkun Zhan
Publikováno v:
Journal of Genetics and Genomics. 48:727-736
Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes. A nuclear gene HPDL (4-hydroxyphenylpyruvate dioxygenase-like), which encodes an intermembrane mitochondrial protein, has been recently implicated in causing a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068b99e43dbd8c726939efc9690c8710
https://doi.org/10.1016/j.jgg.2021.01.009
https://doi.org/10.1016/j.jgg.2021.01.009
Publikováno v:
Chinese Chemical Letters. 34:108266
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f30da1e54a93f2444a89e813383d6eca
https://doi.org/10.1016/j.cclet.2023.108266
https://doi.org/10.1016/j.cclet.2023.108266
Publikováno v:
Journal of Materials Chemistry B. 8:6027-6033
Aggregation-induced emission (AIE) probes have emerged as promising "turn-on" sensing tools for DNA and proteins, and the AIE biosensors conjugated with graphene oxide (GO) have shown improved selectivity. Collagen is an essential structural protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23eb86a839a4e166dafe5819cbd03dd5
https://doi.org/10.1039/d0tb00476f
https://doi.org/10.1039/d0tb00476f
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 31(7)
Streptococcal infection and basal ganglia inflammation are hypothesized to be involved in Tourette’s syndrome (TS). There is a need for effective therapies for managing TS. We studied streptococcal infection and immunity in TS following immunomodul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5fd076ad684416b65c14e4c4b4eaa1
https://pubmed.ncbi.nlm.nih.gov/25930720
https://pubmed.ncbi.nlm.nih.gov/25930720