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[期刊论文] 作者：Xiao-Yu Chen,Dan-Yu Song,Yan-Bin Fan,Dan-Dan Tan,Xing-Zhi Chang,Jiang-Xi Xiao,Tatsushi Toda,Hui Xiong,
来源：中华医学杂志:英文版 年份：2021
Alpha-dystroglycanopathy(α-DGP)is a subtype of congenital muscular dystrophies(CMDs)with autosomal recessive inheritance.Its main pathogenesis is the defect of post-translational O-glycosylation inα-dystroglycan(α-DG).α-DGP presents a w......
Clinical, neuropathological and genetic study of chinese patients with infantile neuroaxonal dystrop
[会议论文] 作者：Ye WU,Yu-Wu JIANG,Zhi-Jie GAO,Jing-Min WANG,Yun YUAN,Hui XIONG,Jiang-Xi XIAO,Xing-Zhi CHANG,Xi-Ru WU,
来源：中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the 年份：2007
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegerative disorder involving both central nervous system and peripheral axons.The clinical picture is characterized by psycho...
[会议论文] 作者：Xin-Hua Bao,Zhi-Xian Yang,Yue-Hua Zhang,Qiang Gu,Fang Fang,Yan Meng,Jiong Qin,Hui-Ping Shi,Xi-Ru Wu,Jiang-Xi Xiao,
来源：The 6th FAONS Congress and 11th Biennial Conference of CNS(第 年份：2015
Congenital hypomyelinating leukodystrophies(HLDs)is a spectrum of genetic disorders with deficiency of myelin substantial deposit in brain white matter,causing development delay,nystagmus and/or other...
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