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

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

Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing

神经退行性疾病遗传

等位基因特异性表达

Expansion of the hexanucleotide repeat (HR) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and fro

NIAID Data Ecosystem90

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

Table S1 - <em>C. elegans</em> Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging

资源简介：

相关数据集