Influence of leptin SDS and SMA type on motor function.

NIAID Data Ecosystem2026-03-10 收录

神经肌肉疾病

肝肾功能与代谢关联

数据链接：

https://figshare.com/articles/dataset/Influence_of_leptin_SDS_and_SMA_type_on_motor_function_/4739779 数据链接链接失效反馈

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资源简介：

Influence of leptin SDS and SMA type on motor function.

创建时间：

2017-03-10

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

神经肌肉疾病

电生理学

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

Neuromuscular Disorders Flagship

神经肌肉疾病

基因组变异分析

Collection of demographic, clinical minimum dataset, genomic variant interpretation data.

Figshare2020-06-25 更新40

SIL1 deficiency in lymphoblastoid cells: antagonizing cellular mechanisms and insights into selective vulnerability in Marinesco-Sjögren syndrome

神经肌肉疾病

细胞适应性响应

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

Supplementary materials for a protocol for quantifying patient preferences in neuromuscular disorders

患者偏好量化

神经肌肉疾病

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

Supplementary Material for: Risk Factors for Common Kidney Stones Are Correlated with Kidney Function Independent of Stone Composition

胆肾结石风险因素

肝肾功能与代谢关联

Background: Kidney stone type varies with age, sex, season, and medical conditions. Lower estimate glomerular filtration rate (eGFR) leads to changes in urine chemistry, and risk factors for kidney st

NIAID Data Ecosystem40

Influence of leptin SDS and SMA type on motor function.

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