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

Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation

FMR1前突变携带者女性亚临床动作性震颤的认知状态相关性

Loesch, Danuta Z; Atkinson, Anna; Hall, Deborah A; Tassone, Flora; Stimpson, Paige; Storey, Elsdon

Limb development genes underlie variation in human fingerprint patterns

肢体发育基因是人类指纹图案变化的基础

Jinxi Li, James D Glover, Haiguo Zhang, Meifang Peng, Jingze Tan, Chandana Basu Mallick, Dan Hou, Yajun Yang, Sijie Wu, Yu Liu, Qianqian Peng, Shijie C Zheng, Edie I Crosse, Alexander Medvinsky, Richard A Anderson, Helen Brown, Ziyu Yuan, Shen Zhou, Yanqing Xu, John P Kemp, Yvonne Y W Ho, Danuta Z L

Australian Parkinson's Genetics Study (APGS): pilot (n=1532)

澳大利亚帕金森病遗传学研究(APGS):试点研究(n=1532)

Bivol, Svetlana; Mellick, George D; Gratten, Jacob; Parker, Richard; Mulcahy, Aoibhe; Mosley, Philip E; Poortvliet, Peter C; Campos, Adrian I; Mitchell, Brittany L; Garcia-Marin, Luis M; Cross, Simone; Ferguson, Mary; Lind, Penelope A; Loesch, Danuta Z; Visscher, Peter M; Medland, Sarah E; Scherzer, Clemens R; Martin, Nicholas G; Rentería, Miguel E

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

血液淋巴母细胞中的细胞生物能量学和 AMPK 和 TORC1 信号传导是 FMR1 前突变携带者临床状态的生物标志物

Danuta Z Loesch, Bruce E Kemp, Minh Q Bui, Paul R Fisher, Claire Y Allan, Oana Sanislav, Kevin R W Ngoei, Anna Atkinson, Flora Tassone, Sarah J Annesley, Elsdon Storey

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene

具有 FMR1 基因前突变等位基因的淋巴母细胞中的线粒体功能、AMPK 和 TORC1 信号传导之间的关系

Paul R Fisher, Claire Y Allan, Oana Sanislav, Anna Atkinson, Kevin R W Ngoei, Bruce E Kemp, Elsdon Storey, Danuta Z Loesch, Sarah J Annesley

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways

FMR1基因前突变X染色体携带者的运动评分与认知功能之间的关系表明小脑-大脑通路早期就参与其中。

Storey, Elsdon; Bui, Minh Q; Stimpson, Paige; Tassone, Flora; Atkinson, Anna; Loesch, Danuta Z

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation

FMR1前突变携带者的总白质和区域白质病变与运动和认知障碍相关

Hocking, Darren R; Loesch, Danuta Z; Trost, Nicholas; Bui, Minh Q; Hammersley, Eleanor; Francis, David; Tassone, Flora; Storey, Elsdon

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

携带 FMR1 等位基因的老年男性的神经系统和白质变化谱以及前突变状态类别与遗传 (CGG 和 FMR1 mRNA) 和细胞应激 (AMPK) 标记物相关

Danuta Z Loesch, Nicholas Trost, Minh Q Bui, Eleanor Hammersley, Sui T Lay, Sarah J Annesley, Oana Sanislav, Claire Y Allan, Flora Tassone, Zhi-Ping Chen, Kevin R W Ngoei, Bruce E Kemp, David Francis, Paul R Fisher, Elsdon Storey

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome

新型血液生物标志物与脆性X染色体相关震颤/共济失调综合征的白质病变有关

Loesch, Danuta Z; Annesley, Sarah J; Trost, Nicholas; Bui, Minh Q; Lay, Sui T; Storey, Elsdon; De Piazza, Shawn W; Sanislav, Oana; Francione, Lisa M; Hammersley, Eleanor M; Tassone, Flora; Francis, David; Fisher, Paul R

Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity

永生化帕金森病淋巴细胞增强了线粒体呼吸活动

Sarah J Annesley, Sui T Lay, Shawn W De Piazza, Oana Sanislav, Eleanor Hammersley, Claire Y Allan, Lisa M Francione, Minh Q Bui, Zhi-Ping Chen, Kevin R W Ngoei, Flora Tassone, Bruce E Kemp, Elsdon Storey, Andrew Evans, Danuta Z Loesch, Paul R Fisher