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

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits

对来自神经系统疾病患者的 12,496 个外显子组中短串联重复序列扩增的分析表明,基因分型率因外显子组捕获试剂盒的不同而存在差异。

Rocca, Clarissa; Murphy, David; Clarkson, Chris; Zanovello, Matteo; Gagliardi, Delia; Genomics, Queen Square; Kaiyrzhanov, Rauan; Alvi, Javeria; Maroofian, Reza; Efthymiou, Stephanie; Sultan, Tipu; Vandrovcova, Jana; Polke, James; Labrum, Robyn; Houlden, Henry; Tucci, Arianna

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

帕金森氏症家族项目:一项覆盖全英国的早发性和家族性帕金森氏症研究

Towns Clodagh, Fang Zih-Hua, Tan Manuela M X, Jasaityte Simona, Schmaderer Theresa M, Stafford Eleanor J, Pollard Miriam, Tilney Russel, Hodgson Megan, Wu Lesley, Labrum Robyn, Hehir Jason, Polke James, Lange Lara M, Schapira Anthony H V, Bhatia Kailash P, Singleton Andrew B, Blauwendraat Cornelis, Klein Christine, Houlden Henry, Wood Nicholas W, Jarman Paul R, Morris Huw R, Real Raquel

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

线粒体疾病的基因检测:英国最佳实践指南

Mavraki, Eleni; Labrum, Robyn; Sergeant, Kate; Alston, Charlotte L; Woodward, Cathy; Smith, Conrad; Knowles, Charlotte V Y; Patel, Yogen; Hodsdon, Philip; Baines, Jack P; Blakely, Emma L; Polke, James; Taylor, Robert W; Fratter, Carl

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

利用外显子组测序数据进行线粒体DNA分析可提高神经系统疾病的诊断率

Poole, Olivia V; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L; Bugiardini, Enrico; Woodward, Cathy E; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A; Gregory, Allison; Hayflick, Susan J; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G; Pittman, Alan; Pitceathly, Robert D S

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

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

在一大群基因未确定的共济失调患者中,弗里德赖希共济失调的发生率

Brown, Alexander F; Parkinson, Michael H; Garcia-Moreno, Hector; Mudanohwo, Ese; Labrum, Robyn; Sweeney, Mary; Giunti, Paola

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.

MSH3 中的重复变异不是脊髓小脑性共济失调 3 型和弗里德赖希共济失调的遗传修饰因子

Yau Wai Yan, Raposo Mafalda, Bettencourt Conceição, Labrum Robyn, Vasconcelos João, Parkinson Michael H, Giunti Paola, Wood Nicholas W, Lima Manuela, Houlden Henry

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

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

体重指数下降与脊髓小脑性共济失调疾病进展相关

Diallo, Alhassane; Jacobi, Heike; Schmitz-Hübsch, Tanja; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schöls, Ludger; Hengel, Holger; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P; Timmann, Dagmar; Boesch, Sylvia; Pandolfo, Massimo; Schulz, Jörg B; Bauer, Peter; Giunti, Paola; Baliko, Laszlo; Parkinson, Michael H; Kang, Jun-Suk; Klockgether, Thomas; Tezenas du Montcel, Sophie