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资源简介：
raw data of SOD1 patient with additional likely pathogenic variants
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创建时间：
2023-12-01
相关数据集
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy
A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk
干细胞与再生医学数据中心2022-02-20 更新70
DataSheet2_Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis.DOCX
Background: CYLD Lysine 63 Deubiquitinase gene (CYLD) was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). In the current study
NIAID Data Ecosystem30
Integrative genome-wide analysis of PBMCs confirmed SOD1-specific functionality of ATF3 in ALS blood. Integrative genome-wide analysis of PBMCs confirmed SOD1-specific functionality of ATF3 in ALS blood
Amyotrophic Lateral Sclerosis (ALS) is characterized by a progressive loss of upper and lower motor neurons, leading to progressive weakness and atrophy of limb, bulbar and respiratory muscles. Since
NIAID Data Ecosystem20
Comparative gene expression analysis of thoracic spinal cord from G93A SOD1 mutant rats and from wild type littermates following mild compression injury. Rattus norvegicus
In this study we investigate how the molecular response to a mechanical stress applied to the spinal cord can be modified by a G93A SOD1 gene mutation, a genetic defect known to cause an invariably fa
NIAID Data Ecosystem40
Haplotype sequence, frequency, and hap score in SOD1 haplotypes.
Haplotype sequence, frequency, and hap score in SOD1 haplotypes.
Figshare2016-10-19 更新30
