官方服务：
资源简介：
Ataxia-telangiectasia cerebellar cortex expression
应用场景：
创建时间：
2015-10-30
相关数据集
TEFM variants impair mitochondrial transcription elongation causing childhood-onset neurological disease
We report that TEFM variants are associated with mitochondrial respiratory chain deficiency. We show that patient's cells have reduced levels of promoter distal mitochondrial RNA transcripts. Patient'
NIAID Data Ecosystem50
Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function
We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing Overall design: Identification and biochemical characterization of mutant CLP1 i
NIAID Data Ecosystem40
Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function. Homo sapiens
We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing Overall design: Identification and biochemical characterization of mutant CLP1 i
NIAID Data Ecosystem40
Prevalence and Frequency of Amyotrophic Lateral Sclerosis with C9orf72 and SOD1 Genetic Variants
Introduction: ALS or Amyotrophic lateral sclerosis, is a rare neurological disorder characterized by the progressive deterioration of motor neurons. Assessment of the size/geographic distribution of t
NIAID Data Ecosystem40
Raw sanger files.
a Chinese patient with suspected DEE identified a novel likely pathogenic frameshift variant in RNF13 (c.929del/p.Pro310fs*3)
DataCite Commons2025-04-15 更新40
