Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Lu Lu, Lai"'
Autor:
Miao Zhao, Hui-Zhen Su, Yi-Heng Zeng, Yuan Sun, Xin-Xin Guo, Yun-Lu Li, Chong Wang, Zhi-Yuan Zhao, Xue-Jing Huang, Kai-Jun Lin, Zi-Ling Ye, Bi-Wei Lin, Shunyan Hong, Jitan Zheng, Yao-Bin Liu, Xiang-Ping Yao, Dehao Yang, Ying-Qian Lu, Hai-Zhu Chen, Erwei Zuo, Guang Yang, Hong-Tao Wang, Chen-Wei Huang, Xiao-Hong Lin, Zhidong Cen, Lu-Lu Lai, Yan-Ke Zhang, Xi Li, Tianmin Lai, Jingjing Lin, Dan-Dan Zuo, Min-Ting Lin, Chia-Wei Liou, Qing-Xia Kong, Chuan-Zhu Yan, Zhi-Qi Xiong, Ning Wang, Wei Luo, Cui-Ping Zhao, Xuewen Cheng, Wan-Jin Chen
Publikováno v:
Cell Discovery, Vol 8, Iss 1, Pp 1-17 (2022)
Abstract Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major
Externí odkaz:
https://doaj.org/article/9415229f27c04eb299808dca7e144e8f
Autor:
Lu‐Lu Lai, Yi‐Jun Chen, Yun‐Lu Li, Xiao‐Hong Lin, Meng‐Wen Wang, En‐Lin Dong, Ning Wang, Wan‐Jin Chen, Xiang Lin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1862-1869 (2020)
Abstract Objective Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia‐spasticity diseas
Externí odkaz:
https://doaj.org/article/c187a7c971e243c1bcadca5b8ca8468d
Autor:
Yi-Heng Zeng, Bi-Wei Lin, Hui-Zhen Su, Xin-Xin Guo, Yun-Lu Li, Lu-Lu Lai, Wan-Jin Chen, Miao Zhao, Xiang-Ping Yao
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in M
Externí odkaz:
https://doaj.org/article/29d685f797ac410380ddb0a296c6a6db
Autor:
Liu-Qing Xu, Wei Hu, Qi-Fu Guo, Lu-Lu Lai, Guo-Rong Xu, Wan-Jin Chen, Ning Wang, Qi-Jie Zhang
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Objective: This study aims to explore the association between median nerve-neurophysiological index (NI) and survival of patients with amyotrophic lateral sclerosis (ALS).Methods: A retrospective case series with a prospective follow-up study was per
Externí odkaz:
https://doaj.org/article/11977fb54d8d4024b843a0dcf9799bf4
Autor:
Ying-qian Lu, En-lin Dong, Wei-qi Yang, Lu-lu Lai, Xiao-hong Lin, Li-xiang Ma, Wan-jin Chen, Ning Wang, Xiang Lin
Publikováno v:
Stem Cell Research, Vol 34, Iss , Pp - (2019)
The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene,
Externí odkaz:
https://doaj.org/article/726e330bcace4bcb99d9f8f7aa303141
Autor:
Yun-Lu Li, Hui-Zhen Su, Yao Xiangping, Lu-Lu Lai, Miao Zhao, Wan-Jin Chen, Yi-Heng Zeng, Bi-Wei Lin, Xin-Xin Guo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecf7d561ce2c3ee786bd1bcff3b64b1
https://www.frontiersin.org/articles/10.3389/fgene.2021.732389/full
https://www.frontiersin.org/articles/10.3389/fgene.2021.732389/full
Autor:
Yidi Sun, Ying-Qian Lu, Lixiang Ma, Changyang Zhou, Wan-Jin Chen, Lu-Lu Lai, He Li, Min-Ting Lin, Xiaowen Shen, Qifang Wang, Hui Yang, Wenqin Ying, Linyu Shi, Xiang Lin, Shuang Wu, Jin-Jing Li, Ning Wang, Qi-Jie Zhang, Adrian R. Krainer, Erwei Zuo, Xin-Xin Guo, Hai-Zhu Chen, Cheng Tang, Xinde Hu
Publikováno v:
National Science Review
We here report a genome-editing strategy to correct spinal muscular atrophy (SMA). Rather than directly targeting the pathogenic exonic mutations, our strategy employed Cas9 and guide-sgRNA for the targeted disruption of intronic splicing-regulatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12409ee1e044a102bdb596c00d044557
https://doi.org/10.1093/nsr/nwz131
https://doi.org/10.1093/nsr/nwz131
Autor:
Xiao-Huan Zou, Dong-Ping Chen, Bing-Cong Hong, Yao-Bin Liu, Lu-Lu Lai, Xin-Xin Guo, Chang-Yun Liu, Ji-Dong Peng, Jing-Hui Lai, Hui-Zhen Su, Qing-Yang Yao, Hua-Song Lin, Yu-Ying Zhao, Xiao-Pei Lu, Hong-Xia Fu, Yao Xiangping, Dan-Qin Huang, Wan-Jin Chen, Pan Lin, Chong Wang, Yu-Chun Deng, Xiao-Qun Zhu, Hai-Liang Lin, Yan-Fang Niu, Xue-Jiao Chen, Yong-Kun Li, Ning Wang, Hai-Ting Chen, Gen-Bin Huang
Publikováno v:
Human Mutation. 40:392-403
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four causative genes (SLC20A2, PDGFRB, PDGFB, and XPR1) that have been identified. Here, we aim to describe the mutational spectrum of four causative genes in a ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccdfb0beac5e5a9cbbc297b7be489ad
https://doi.org/10.1002/humu.23703
https://doi.org/10.1002/humu.23703
Publikováno v:
Yi chuan = Hereditas. 42(10)
Primary familial brain calcification (PFBC) is a chronic progressive neurogenetic disorder. Its clinical symptoms mainly include dyskinesia, cognitive disorder and mental impairment; and the pathogenesis remains unclear. Studies have shown that SLC20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49eca1d68f1203d2f96ada606acf8cab
https://pubmed.ncbi.nlm.nih.gov/33229326
https://pubmed.ncbi.nlm.nih.gov/33229326
Autor:
Yi-Heng Zeng, Yi-Jun Chen, Xiang Lin, Zhi-Yuan Zhao, Yun-Lu Li, Hai-Zhu Chen, Yi Lin, Gui-He Li, Xiao-Hong Lin, Lu-Lu Lai, Wan-Jin Chen, Qi-Qi Wang, Ji-Ting Zhu, Ying Fu, Guanghou Shui, Meng-Wen Wang, Sin Man Lam, Ning Wang, Xue-Jing Huang
Publikováno v:
SSRN Electronic Journal.
Background: Hereditary spastic paraplegia type 5 (SPG5) is an ultra-rare neurogenetic axon-degenerative disease. The absence of treatment to prevent disease progression represents a major unmet clinical need. With a greater understanding of the patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a331d21040f78d98dff78bc7b7e6206
https://doi.org/10.2139/ssrn.3569873
https://doi.org/10.2139/ssrn.3569873