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

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

线粒体疾病的变迁：常染色体隐性遗传性POLG病模拟重症肌无力和进行性核上性麻痹

期刊:BMJ Neurology Open
影响因子:2.4
doi:10.1136/bmjno-2022-000352
Elwan, Menatalla; Schaefer, Andrew M; Craig, Kate; Hopton, Sila; Falkous, Gavin; Blakely, Emma L; Taylor, Robert W; Warren, Naomi
线粒体
重症肌无力
免疫/内分泌
发表日期：2022
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Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy

阿昔莫司治疗线粒体肌病（AIMM）：一项随机、双盲、安慰剂对照、适应性设计试验的研究方案，旨在评估阿昔莫司治疗成人线粒体肌病患者的疗效。

期刊:Trials
影响因子:2
doi:10.1186/s13063-022-06544-x
Abouhajar, Alaa; Alcock, Lisa; Bigirumurame, Theophile; Bradley, Penny; Brown, Laura; Campbell, Ian; Del Din, Silvia; Faitg, Julie; Falkous, Gavin; Gorman, Gráinne S; Lakey, Rachel; McFarland, Robert; Newman, Jane; Rochester, Lynn; Ryan, Vicky; Smith, Hesther; Steel, Alison; Stefanetti, Renae J; Su, Huizhong; Taylor, Robert W; Thomas, Naomi J P; Tuppen, Helen; Vincent, Amy E; Warren, Charlotte; Watson, Gillian
线粒体
多发性骨髓瘤
发表日期：2022
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A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

一种新型MT-CO2变异体导致小脑共济失调和神经病变：肌肉活检在诊断和致病性鉴定中的作用

期刊:Neuromuscular Disorders
影响因子:2.8
doi:10.1016/j.nmd.2021.05.014
Baty, Karen; Farrugia, Maria E; Hopton, Sila; Falkous, Gavin; Schaefer, Andrew M; Stewart, William; Willison, Hugh J; Reilly, Mary M; Blakely, Emma L; Taylor, Robert W; Ng, Yi Shiau
CO2
神经科学
发表日期：2021
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Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

人体骨骼肌线粒体网络的定量三维映射

期刊:Cell Reports
影响因子:6.9
doi:10.1016/j.celrep.2019.01.010
Vincent Amy E, White Kathryn, Davey Tracey, Philips Jonathan, Ogden R Todd, Lawless Conor, Warren Charlotte, Hall Matt G, Ng Yi Shiau, Falkous Gavin, Holden Thomas, Deehan David, Taylor Robert W, Turnbull Doug M, Picard Martin
骨科研究
Human
线粒体
发表日期：2019
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Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

由YARS2基因中新的致病性错义变异引起的伴有肌病的铁粒幼细胞性贫血

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2018.194464
Smith, Frances; Hopton, Sila; Dallabona, Cristina; Gilberti, Micol; Falkous, Gavin; Norwood, Fiona; Donnini, Claudia; Gorman, Gráinne S; Clark, Barnaby; Taylor, Robert W; Kulasekararaj, Austin G
细胞生物学
RS2
贫血
代谢
发表日期：2018
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Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

特发性肺动脉高压患者骨骼肌线粒体氧化磷酸化功能：体内和体外研究

期刊:Pulmonary Circulation
影响因子:2.5
doi:10.1177/2045894018768290
Sithamparanathan, Sasiharan; Rocha, Mariana C; Parikh, Jehill D; Rygiel, Karolina A; Falkous, Gavin; Grady, John P; Hollingsworth, Kieren G; Trenell, Michael I; Taylor, Robert W; Turnbull, Doug M; Gorman, Gráinne S; Corris, Paul A
信号转导
心血管
肺动脉高压
线粒体
磷酸化
发表日期：2018
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Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

利用定量四重免疫荧光检测法诊断孤立性线粒体复合物I缺陷

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-017-14623-2
Ahmed, Syeda T; Alston, Charlotte L; Hopton, Sila; He, Langping; Hargreaves, Iain P; Falkous, Gavin; Oláhová, Monika; McFarland, Robert; Turnbull, Doug M; Rocha, Mariana C; Taylor, Robert W
线粒体
IF
免疫/内分泌
发表日期：2017
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De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

新发的CTBP1变异与线粒体呼吸链活性降低有关

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000187
Sommerville, Ewen W; Alston, Charlotte L; Pyle, Angela; He, Langping; Falkous, Gavin; Naismith, Karen; Chinnery, Patrick F; McFarland, Robert; Taylor, Robert W
线粒体
TBP
CTBP1
发表日期：2017
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Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

由新型MT-TV基因突变引起的驼背和拖曳步态：诊断陷阱

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000147
Reimann, Jens; Lehmann, Diana; Hardy, Steven A; Falkous, Gavin; Knowles, Charlotte V Y; Jones, Rachel L; Kunz, Wolfram S; Taylor, Robert W; Kornblum, Cornelia
发表日期：2017
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Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

致病性线粒体DNA突变导致线粒体肌病：肌肉活检的必要性

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000082
Hardy, Steven A; Blakely, Emma L; Purvis, Andrew I; Rocha, Mariana C; Ahmed, Syeda; Falkous, Gavin; Poulton, Joanna; Rose, Michael R; O'Mahony, Olivia; Bermingham, Niamh; Dougan, Charlotte F; Ng, Yi Shiau; Horvath, Rita; Turnbull, Doug M; Gorman, Grainne S; Taylor, Robert W
线粒体
发表日期：2016
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