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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)

ChEBI2010-03-07 更新2026-07-21 收录

神经退行性疾病遗传

肌萎缩侧索硬化症亚型分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-19332 数据链接链接失效反馈

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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)

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创建时间：

2010-03-07

阿尔茨海默病基因组学

神经退行性疾病遗传

阿尔茨海默病测序项目（ADSP）是一个专注于研究阿尔茨海默病及相关痴呆症遗传结构的基因组学数据库。该项目由美国国立卫生研究院资助，旨在通过对大规模基因组数据进行测序和分析，以识别疾病相关的遗传变异。其数据主要通过NIAGADS数据共享服务进行发布和访问。

知名数据库5000

Additional file 2 of A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

神经退行性疾病遗传

遗传流行病学

Additional file 2: Table S1. Demographic information of the included cohorts and their respective sub-cohorts.

Figshare2022-03-09 更新70

a novel splice site ALS2 variation

神经退行性疾病遗传

运动神经元基因变异

ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts

NIAID Data Ecosystem60

Supplementary Material for: Association of Dopamine Beta-Hydroxylase Polymorphisms with Alzheimer’s Disease, Parkinson’s Disease and Schizophrenia: Evidence Based on Currently Available Loci

神经退行性疾病遗传

多巴胺β-羟化酶多态性

Background/Aims: The neuropathies Alzheimer’s disease (AD), Parkinson’s disease (PD), and schizophrenia (SCZ) have different pathological mechanisms but share some common neurodegenerative features, s

NIAID Data Ecosystem80

神经退行性疾病遗传

脑白质病变诊断

Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Thro

DataONE2020-06-24 更新70

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)

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