日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures

一种新的ADPRS错义变异(p.Leu162Pro)导致应激诱发的儿童期发病神经退行性疾病,伴有共济失调和癫痫发作

de Mattos, Priscilla Doria; de Moura, Rafael Dias; Bertolino, Murilo Fígaro; Valente, Penélope Ferreira; Matos, Isaac Araujo; Caldas, Vitor Marques; Lobao Cunha, Paulo Emidio; Kok, Fernando; Hoch, Nicolas Carlos

A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure

ADPRS基因的一种新变异会破坏患有神经退行性疾病和呼吸衰竭的儿童体内ARH3的稳定性和亚细胞定位。

Bannister, Maxwell; Bray, Sarah; Aggarwal, Anjali; Billington, Charles; Nguyen, Hai Dang

ADP-ribosylation of RNA in mammalian cells is mediated by TRPT1 and multiple PARPs

哺乳动物细胞中RNA的ADP核糖基化是由TRPT1和多种PARP介导的。

Lisa Weixler ,Karla L H Feijs ,Roko Zaja

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

复杂神经病变中的双等位基因 ADPRHL2 突变影响 ADP 核糖基化和 DNA 损伤反应

Danique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, Evgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, Ivan Ahel, Jonathan Baets

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report

由ADPRS基因两个复合杂合变异引起的儿童期发病型小脑共济失调:病例报告

Ma, Jiehui; Qian, Qiaoqiao; Yan, Shuang; Dou, Haoyu; Li, Cheng; Sun, Dan