Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Zhi-dong CEN"'
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 17, Iss 7, Pp 484-489 (2017)
Primary familial brain calcification (PFBC), characterized by bilateral, symmetric calcifications in basal ganglia and other brain regions and visualized in neuroimaging and neuropsychiatric manifestations variable in type and severity, is a neurodeg
Externí odkaz:
https://doaj.org/article/e6e4d2dc8a6648d3861a196b5f9e35d4
Autor:
Zhi-Yuan Ouyang, You Chen, Da-Qiang Qin, Zhi-Dong Cen, Xiao-Sheng Zheng, Fei Xie, Si Chen, Hao-Tian Wang, De-Hao Yang, Xin-Hui Chen, Le-Bo Wang, Bao-Rong Zhang, Wei Luo, Xin Chen
Publikováno v:
Chinese Medical Journal, Vol 133, Iss 21, Pp 2633-2634 (2020)
Externí odkaz:
https://doaj.org/article/18272668db7042e9bc69203a611b355d
Autor:
Xiao-Dong Yang, Zhi-Dong Cen, Hai-Peng Cheng, Kai Shi, Jie Bai, Fei Xie, Hong-Wei Wu, Bei-Bei Li, Wei Luo
Publikováno v:
Frontiers in Neuroscience, Vol 11 (2017)
Charcot–Marie–Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is the most common inherited peripheral nerve disorder. Missense mutations, such as K141N, in the small heat shock protein HSPB8 are known to cause distal h
Externí odkaz:
https://doaj.org/article/699ba41d03054d9fa971e990d1af4bad
Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family
Autor:
Zhi-Dong, Cen, Fei, Xie, Dan-Ning, Lou, Xing-Jiao, Lu, Zhi-Yuan, Ouyang, Ling, Liu, Jin, Cao, Dan, Li, Hou-Min, Yin, Zhong-Jin, Wang, Jian-Feng, Xiao, Wei, Luo
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 168(7)
Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we rep
Publikováno v:
Neurology India. Jul/Aug2014, Vol. 62 Issue 4, p451-453. 3p.
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 30(4)
Hereditary spastic paraplegia(HSP or SPG) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity, weakness of lower limbs, and pathologically by retrograde axonal degeneration of cort