Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mei zhi Dai"'
Autor:
Tetsuo Ashizawa, Zhao Chen, Xiao ming Wei, Li fang Lei, Zheng mao Hu, Kun Xia, Zhan fang Sun, Bei Sha Tang, Yu ting Shi, Qian Pan, Jing jing Xiao, Yu Liu, Qing yan Zhang, Lu Shen, Mei zhi Dai, Junling Wang, Hong Jiang
Publikováno v:
Neurobiology of aging. 34(10)
Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a7985549673217612c31d4fd025b2c
https://pubmed.ncbi.nlm.nih.gov/23726790
https://pubmed.ncbi.nlm.nih.gov/23726790
Autor:
Lan Zheng, Xun-Hua Li, Junling Wang, Peng Zhang, Li Cao, Xiao Mao, San-A, Jia-Da Li, Ying Zhou, Kun Xia, Su-Qin Chen, Sanxi Ai, Beisha Tang, Weiqian Yan, Jianguo Zhang, Sheng-Di Chen, Mei-zhi Dai, Lu Shen, Yu Liang, Yuting Shi, Jifeng Guo, Nan Li, Hong Jiang, Zhengmao Hu
Publikováno v:
Brain
Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e015696d9a0d58ff891e210e218f53
https://pubmed.ncbi.nlm.nih.gov/22649004
https://pubmed.ncbi.nlm.nih.gov/22649004
Autor:
Xiao Jingjing, Zhengmao Hu, Zhuohua Zhang, Juan Du, Kun Xia, Miao He, Yacen Hu, Yuting Shi, Hong Jiang, Li Shen, Jia-Da Li, Jifeng Guo, Qian Pan, Yafang Zhou, Junling Wang, Qian Ya Xu, Jun Wang, Haigang Ren, Nan Li, Fu-feng Zhang, Ying Zhou, Weiqian Yan, Guanghui Wang, Zheng Su, Wen-Juan Guan, Beisha Tang, Jianguo Zhang, Mei-zhi Dai
Publikováno v:
PLoS ONE
PLoS ONE, Vol 8, Iss 12, p e81884 (2013)
Shi, Y, Wang, J, Li, J-D, Ren, H, Guan, W, He, M, Yan, W, Zhou, Y, Hu, Z, Zhang, J, Xiao, J, Su, Z, Dai, M, Wang, J, Jiang, H, Guo, J, Zhou, Y, Zhang, F, Li, N, Du, J, Xu, Q, Hu, Y, Pan, Q, Shen, L, Wang, G, Xia, K, Zhang, Z & Tang, B 2013, ' Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia ', P L o S One, vol. 8, no. 12, e81884 . https://doi.org/10.1371/journal.pone.0081884
PLoS ONE, Vol 8, Iss 12, p e81884 (2013)
Shi, Y, Wang, J, Li, J-D, Ren, H, Guan, W, He, M, Yan, W, Zhou, Y, Hu, Z, Zhang, J, Xiao, J, Su, Z, Dai, M, Wang, J, Jiang, H, Guo, J, Zhou, Y, Zhang, F, Li, N, Du, J, Xu, Q, Hu, Y, Pan, Q, Shen, L, Wang, G, Xia, K, Zhang, Z & Tang, B 2013, ' Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia ', P L o S One, vol. 8, no. 12, e81884 . https://doi.org/10.1371/journal.pone.0081884
Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currentl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f522c9e5779b72dbbbb10909a105fd
https://doi.org/10.1371/journal.pone.0081884
https://doi.org/10.1371/journal.pone.0081884