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

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3

重复序列结构和rs7158733 SNP在脊髓小脑性共济失调3型中的作用

Nethisinghe, Suran; Garcia-Moreno, Hector; Alwan, Jude; Labrum, Robyn; Giunti, Paola

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

可穿戴式动作捕捉服和机器学习技术可预测弗里德赖希共济失调症的疾病进展。

Kadirvelu, Balasundaram; Gavriel, Constantinos; Nageshwaran, Sathiji; Chan, Jackson Ping Kei; Nethisinghe, Suran; Athanasopoulos, Stavros; Ricotti, Valeria; Voit, Thomas; Giunti, Paola; Festenstein, Richard; Faisal, A Aldo

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

多组学分析表明,共济失调蛋白 sacsin 是整合素运输和突触组织所必需的

Lisa E L Romano, Wen Yih Aw, Kathryn M Hixson, Tatiana V Novoselova, Tammy M Havener, Stefanie Howell, Bonnie Taylor-Blake, Charlotte L Hall, Lei Xing, Josh Beri, Suran Nethisinghe, Laura Perna, Abubakar Hatimy, Ginevra Chioccioli Altadonna, Lee M Graves, Laura E Herring, Anthony J Hickey, Konstanti

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

白细胞端粒长度变异性作为多聚谷氨酰胺疾病患者的潜在生物标志物

Scarabino, Daniela; Veneziano, Liana; Fiore, Alessia; Nethisinghe, Suran; Mantuano, Elide; Garcia-Moreno, Hector; Bellucci, Gianmarco; Solanky, Nita; Morello, Maria; Zanni, Ginevra; Corbo, Rosa Maria; Giunti, Paola

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner

FXN GAA重复通路中断会以位置依赖性方式延迟弗里德赖希共济失调的发病年龄

Nethisinghe, Suran; Kesavan, Maheswaran; Ging, Heather; Labrum, Robyn; Polke, James M; Islam, Saiful; Garcia-Moreno, Hector; Callaghan, Martina F; Cavalcanti, Francesca; Pook, Mark A; Giunti, Paola

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

Hsp90 抑制:一种有前景的 ARSACS 治疗方法

Suran Nethisinghe, Rosella Abeti, Maheswaran Kesavan, W Christian Wigley, Paola Giunti

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

脊髓小脑共济失调的遗传学和临床表现的复杂性 17

Suran Nethisinghe, Wei N Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P Lunn, Kailash P Bhatia, Nicholas W Wood, John Hardy, James M Polke, Liana Veneziano,

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.

在SCA1中,PolyQ序列的毒性与长度有关,且不存在CAG重复序列中断

Nethisinghe Suran, Pigazzini Maria Lucia, Pemble Sally, Sweeney Mary G, Labrum Robyn, Manso Katarina, Moore David, Warner Jon, Davis Mary B, Giunti Paola

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

缺乏共济失调蛋白sacsin的细胞中,中间丝细胞骨架的组织结构发生改变,蛋白质稳态调节因子发生重新定位。

Duncan, Emma J; Larivière, Roxanne; Bradshaw, Teisha Y; Longo, Fabiana; Sgarioto, Nicolas; Hayes, Matthew J; Romano, Lisa E L; Nethisinghe, Suran; Giunti, Paola; Bruntraeger, Michaela B; Durham, Heather D; Brais, Bernard; Maltecca, Francesca; Gentil, Benoit J; Chapple, J Paul

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Drp1介导的裂变减少会损害沙勒沃伊-萨格奈常染色体隐性痉挛性共济失调患者的线粒体健康。

Bradshaw, Teisha Y; Romano, Lisa E L; Duncan, Emma J; Nethisinghe, Suran; Abeti, Rosella; Michael, Gregory J; Giunti, Paola; Vermeer, Sascha; Chapple, J Paul