Loss of function mutations in TDP-43 modifier genes.

NIAID Data Ecosystem2026-03-11 收录

神经退行性疾病遗传

TDP43蛋白病

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https://figshare.com/articles/dataset/Loss_of_function_mutations_in_TDP-43_modifier_genes_/11367278 数据链接链接失效反馈

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资源简介：

Loss of function mutations in TDP-43 modifier genes.

创建时间：

2019-12-13

HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation

神经退行性机制

TDP43蛋白病

Aim: The demonstration that chaperone-mediated autophagy (CMA) contributes to the degradation of TDP-43, the main constituent of cytoplasmic inclusions typically found in motor neurons of patients wit

NIAID Data Ecosystem90

神经退行性疾病遗传

基因突变检测

Electropherograms of DNA showing the mutation in the proband.

Zenodo2021-04-08 更新60

Demographic and molecular data of control subjects and McLeod Syndrome and chorea-acanthocytosis patients.

神经退行性疾病遗传

罕见病分子诊断

M; male; F: female; yrs: years; ChAc: chorea-acanthocytosis; MLS: Mcleod Syndrome; Control age is presented as means ± SD. Molecular defect” refers to the VPS13A and XK gene, respectively, that are re

Figshare2015-12-02 更新40

UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia

神经退行性疾病遗传

UBA5基因突变

Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. Through whole-exome sequencing, we identified compound heterozygous mutations in

Figshare2016-01-07 更新90

Replication of the association of rs207650 in TOMM40/APOE.

遗传关联研究

神经退行性疾病遗传

The table shows the replicated associations of the SNP rs207650 in TOMM40/APOE in the replication set 1 and the additional control set from the Parkinson's Disease study. Column legends: SNP = officia

Figshare2015-12-02 更新50

Loss of function mutations in TDP-43 modifier genes.

资源简介：

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