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Proteolipid protein 1 gene mutations in 33 Chinese patients with pelizaeus-merzbacher disease and pr
[会议论文] 作者：Jing-Min WANG,Ye WU,Hai-Juan ZHAO,Jing SHANG,Yan-Ling YANG,Jiong QIN,Xi-Ru WU,Yu-Wu JIANG,
来源：中国神经科学学会第九届全国学术会议暨第五届会员代表大会 年份：2011
Objective This study was to identify Proteolipid protein 1 (PLP1) mutations in 33 unrelated Chinese patients (P1-33) with Pelizaeus-Merzbacher disease (PMD) and prenatal diagnosis of 5 fetuses in 3 Ch...
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：,Yu-Wu JIANG,Ye WU,Tony M.F.TONG,Stephen T.S.LAM,Hui-Fang WANG,Xin-yi LI,Yan-Ling YANG,Jiong QIN,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
Objective Pelizaeus-Merzbacher disease (PMD; OMIM 312080) is a rare X-linked recessive disorder presenting with nystagmus,impaired motor development,ataxia,and progressive spasticity.Traditionally,PMD...
Identification and functional studies of MLC1 mutations in Chinese patients with megalencephalic leu
[会议论文] 作者：Han XIE,Li-Wen WANG,Zhi-Jie GAO,David COLMAN,Xi-Ru WU,Yu-Wu JIANG,Jing-Min WANG,Ajit Sigh DHAUCHAK,Jing,
来源：2011中国遗传学会大会 年份：2011
Objective Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM＃ 604004) is an autosomal recessively inherited disease resulting from a deficiency...
[会议论文] 作者：Xiong,Xin-Hua Bao,Zhi-Xian Yang,Yue-Hua Zhang,Qiang Gu,Fang Fang,Yan Meng,Jiong Qin,Hui-Ping Shi,Xi-Ru Wu,
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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