官方服务:
资源简介:
Summary of the patients with MDCMD.
应用场景:
创建时间:
2017-02-10
相关数据集
面部起病的感觉运动神经元病综合征临床及神经电生理特点分析
目的:探讨面部起病的感觉运动神经元病(FOSMN)综合征的临床特点及电生理特点。方法:收集2012年1月至2022年12月在北京协和医院诊断为FOSMN综合征的患者10例,对患者的临床及电生理特点进行分析和总结,同时对患者进行基因检测,明确其基因变异类型。结果:10例患者的发病年龄为(56.6±6.5)岁,病程最长达10年。所有患者均以面部及口周麻木为首发症状,伴有瞬目反射异常。感觉神经传导检测共
中国科学院中国科学技术大学科学数据中心220
SIL1 deficiency in lymphoblastoid cells: antagonizing cellular mechanisms and insights into selective vulnerability in Marinesco-Sjögren syndrome
Patients with Marinesco-Sjögren syndrome and gene targeting in mice revealed an essential role for the SIL1/Sil1 gene in maintenance of central nervous tissue and skeletal muscle. SIL1/Sil1 expression
NIAID Data Ecosystem30
Kinematics (joint angle) descriptions.
H: affected lower limb in children with hemiplegia or R: right lower limb in children with mild scoliosis; UH: unaffected lower limb in children with hemiplegia or L: left lower limb in children with
Figshare2015-12-02 更新00
Supplementary materials for a protocol for quantifying patient preferences in neuromuscular disorders
The extended data includes: Team members listed, participant information sheets, consent forms and a list of attributes to be included in each Treatment Preference Methods.
NIAID Data Ecosystem50
Influence of leptin SDS and SMA type on motor function.
Influence of leptin SDS and SMA type on motor function.
NIAID Data Ecosystem20



