CANDLE supporting metabolomics datasets

Mendeley Data2026-04-09 收录

罕见病代谢组学

神经发育障碍

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Supporting targeted metabolomics datasets for "CANDLE syndrome 20S proteasome mutations cause altered neuronal development related to dysregulated polyamine synthesis"

Supplementary Material for: MeCP2 270 Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus

基因突变

神经发育障碍

The MECP2 gene, located at Xq28, encodes methyl-CpG-binding protein 2 (MeCP2), which is frequently mutated (up to 90%) in Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder,

DataCite Commons2020-09-02 更新270

Reduced CYFIP1 in human neural progenitors as 15q11.2 deletion model: donor specific dysregulation of schizophrenia/epilepsy genes

癫痫相关基因

神经发育障碍

Deletions at 15q11.2 have been established to increase risk for multiple neurodevelopmental disorders (NDDs) including schizophrenia and epilepsy, yet show variable expressivity between individuals. T

NIAID Data Ecosystem60

Labour and Delivery factors associated with ASD and IDa.

神经发育障碍

围产期医学

Labour and Delivery factors associated with ASD and IDa.

Figshare2015-12-02 更新20

AKTIVES: A physiological signal database of children with neurodevelopmental disorders for stress recognition

神经发育障碍

生理信号分析

This is a supplementary repository for the AKTIVES Dataset 2022 presented in the article titled "AKTIVES: A physiological signal database of children with neurodevelopmental disorders for stress recog

Mendeley Data2024-03-27 更新220

An Analysis of the Correlation Between Poor Short-Term Memory and Behavior in Children and Adolescents with Prader Willi Syndrome, 1996

神经发育障碍

认知行为

The purpose of the “An Analysis of the Correlation Between Poor Short-term Memory and Behavior in Children and Adolescents with Prader Willi Syndrome, 1996” was to investigate whether there were any c

DataCite Commons2023-02-28 更新50

CANDLE supporting metabolomics datasets

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