首页/数据集/Dataset related to article"THE SPTLC1 P.S331 MUTATION BRIDGES SENSORY NEUROPATHY AND MOTOR NEURON DISEASE AND HAS IMPLICATIONS FOR TREATMENT"

Dataset related to article"THE SPTLC1 P.S331 MUTATION BRIDGES SENSORY NEUROPATHY AND MOTOR NEURON DISEASE AND HAS IMPLICATIONS FOR TREATMENT"

NIAID Data Ecosystem2026-03-14 收录

遗传性神经病变基因突变

运动神经元疾病

数据链接：

https://zenodo.org/record/7665903 数据链接链接失效反馈

官方服务：

资源简介：

cmt gene panel data of SPTLC1 case

应用场景：

创建时间：

2023-02-23

患者参与研究

运动神经元疾病

Objectives: Patient and public involvement (PPI) is a relatively new practice whereby researchers involve patients and the public in the conduct of their research. The Sheffield Motor Neurone D

DataCite Commons2020-08-26 更新110

Summary statistics for Fig 2A.

运动神经元疾病

细胞内蛋白质运输

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis o

NIAID Data Ecosystem30

Local axonal function of STAT3 rescues axon degeneration in thepmnmodel of motoneuron disease

运动神经元疾病

突变机制

Axonal maintenance, plasticity, and regeneration are influenced by signals from neighboring cells, in particular Schwann cells of the peripheral nervous system. Schwann cells produce neurotrophic fact

NIAID Data Ecosystem20

Raw baseline and NPO data

运动神经元疾病

医疗数据

Raw baseline and nocturnal pulse oximetry data of people with Motor Neuron Disease

DataCite Commons2025-04-09 更新90

Summary statistics for Fig 6A.

运动神经元疾病

细胞内运输

NIAID Data Ecosystem20