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

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

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

RNASEH1相关线粒体疾病的临床病理及分子谱

Bugiardini, Enrico; Poole, Olivia V; Manole, Andreea; Pittman, Alan M; Horga, Alejandro; Hargreaves, Iain; Woodward, Cathy E; Sweeney, Mary G; Holton, Janice L; Taanman, Jan-Willem; Plant, Gordon T; Poulton, Joanna; Zeviani, Massimo; Ghezzi, Daniele; Taylor, John; Smith, Conrad; Fratter, Carl; Kanikannan, Meena A; Paramasivam, Arumugam; Thangaraj, Kumarasamy; Spinazzola, Antonella; Holt, Ian J; Houlden, Henry; Hanna, Michael G; Pitceathly, Robert D S

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

突触前钙通道功能障碍对发作性共济失调2型运动轴突的体内影响

Tomlinson, Susan E; Tan, S Veronica; Burke, David; Labrum, Robyn W; Haworth, Andrea; Gibbons, Vaneesha S; Sweeney, Mary G; Griggs, Robert C; Kullmann, Dimitri M; Bostock, Hugh; Hanna, Michael G

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

神经丝基因3'非翻译区中的隐匿性淀粉样蛋白生成元件引发轴突神经病变

Rebelo, Adriana P; Abrams, Alexander J; Cottenie, Ellen; Horga, Alejandro; Gonzalez, Michael; Bis, Dana M; Sanchez-Mejias, Avencia; Pinto, Milena; Buglo, Elena; Markel, Kasey; Prince, Jeffrey; Laura, Matilde; Houlden, Henry; Blake, Julian; Woodward, Cathy; Sweeney, Mary G; Holton, Janice L; Hanna, Michael; Dallman, Julia E; Auer-Grumbach, Michaela; Reilly, Mary M; Zuchner, Stephan

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

基因定义的线粒体疾病患者的眼外肌MRI检查

Pitceathly, Robert D S; Morrow, Jasper M; Sinclair, Christopher D J; Woodward, Cathy; Sweeney, Mary G; Rahman, Shamima; Plant, Gordon T; Ali, Nadeem; Bremner, Fion; Davagnanam, Indran; Yousry, Tarek A; Hanna, Michael G; Thornton, John S

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

纯合子A467T POLG相关线粒体疾病的临床、神经病理学和遗传学研究

Rajakulendran, Sanjeev; Pitceathly, Robert D S; Taanman, Jan-Willem; Costello, Harry; Sweeney, Mary G; Woodward, Cathy E; Jaunmuktane, Zane; Holton, Janice L; Jacques, Thomas S; Harding, Brian N; Fratter, Carl; Hanna, Michael G; Rahman, Shamima

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

英国疑似线粒体耳聋患者中m.1555A>G (MTRNR1)变异的频率

Kullar, Peter; Alston, Charlotte L; Ball, Sarah; Blakely, Emma L; Differ, Ann-Marie; Fratter, Carl; Sweeney, Mary G; Taylor, Robert W; Chinnery, Patrick F

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

儿童单线粒体DNA缺失疾病:疾病谱的重叠

Broomfield, Alexander; Sweeney, Mary G; Woodward, Cathy E; Fratter, Carl; Morris, Andrew M; Leonard, James V; Abulhoul, Lara; Grunewald, Stephanie; Clayton, Peter T; Hanna, Michael G; Poulton, Joanna; Rahman, Shamima

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6]

对“对大量临床和病理诊断的非典型帕金森病病例中 C9orf72 重复扩增的分析”[Neurobiol. Aging 36 (2015) 1221.e1-1221.e6]的勘误

Schottlaender, Lucia V; Polke, James M; Ling, Helen; MacDoanld, Nicola D; Tucci, Arianna; Nanji, Tina; Pittman, Alan; de Silva, Rohan; Holton, Janice L; Revesz, Tamas; Sweeney, Mary G; Singleton, Andy B; Lees, Andrew J; Bhatia, Kailash P; Houlden, Henry

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

对大量经临床和病理诊断的非典型帕金森综合征病例进行C9orf72重复扩增分析

Schottlaender, Lucia V; Polke, James M; Ling, Helen; MacDoanld, Nicola D; Tucci, Arianna; Nanji, Tina; Pittman, Alan; de Silva, Rohan; Holton, Janice L; Revesz, Tamas; Sweeney, Mary G; Singleton, Andy B; Lees, Andrew J; Bhatia, Kailash P; Houlden, Henry