ATAXIA

作品数：72被引量：94H指数：5
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相关作者：谭静徐先发陈显久张荣波王飞更多>>
相关机构：首都医科大学北京理工大学首都医科大学附属北京朝阳医院太原钢铁（集团）有限公司总医院更多>>
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A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex
《Neuroscience Bulletin》2024年第10期1489-1501,共13页Han-Kui Liu Hong-Lin Hao Hui You Feng Feng Xiu-Hong Qi Xiao-Yan Huang Bo Hou Chang-Geng Tian Han Wang Huan-Ming Yang Jian Wang Rui Wu Hui Fang Jiang-Ning Zhou Jian-Guo Zhang Zhen-Xin Zhang 
supported by the NIH-NIA Research Project (R21AG036454);the National Key R&D Program of China (2016YFC0901500);CAMS Innovation Fund for Medical Sciences (2016-12M-1-004);the National Key R&D Program of China (2016YFC1305900);the National Natural Science Foundation of China (3203004);the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB02030001);Shenzhen Municipal of Government of China (JCYJ20170412153248372 and JCYJ20180507183615145).
This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes,which has not been depicted by the known neurodegenerative disease....
关键词：PARKINSONISM Spinocerebellar ataxia CARS gene 
Mitochondrial Calcium Homeostasis in the Pathology and Therapeutic Application in Friedreich's Ataxia被引量：1
《Neuroscience Bulletin》2023年第4期695-698,共4页Hongting Zhao Zhuoyuan Li Yutong Liu Meng Zhang Kuanyu Li 
supported by the National Natural Science Foundation of China(31871201 and 31371060).
Friedreich's ataxia(FRDA)is the most common neurodegenerative disease caused by an autosomal recessive singlegene mutation,affecting 2-4 per 100,000 Caucasians[1].The causative gene is frataxin(FXN),located on chromos...
关键词：Friedreich THERAPEUTIC STASIS 
RNA binding proteins:a common denominator of neuronal function and dysfunction被引量：2
《Neuroscience Bulletin》2014年第4期610-626,共17页Epaminondas Doxakis 
funded by grants from the Greek General Secretariat for Research and Development,Ministry of Education
In eukaryotic cells, gene activity is not directly reflected by protein levels because mRNA processing, transport, stability, and translation are co- and post-transcriptionally regulated. These processes, collectively...
关键词：alternative polyadenylation CPEB ELAV fragile X syndrome FMRPalternative splicing amyotrophicFUS HU HuB HuC HuD HuR lateral sclerosis anti-Hu syndromeneuron neurodegeneration Nova-1Nova-2 paraneoplastic opsoclonus-myoclonus ataxia PTBP-2 PTBP-1 TDP-43 FTLD 
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