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

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

TOP3A 的病理变异导致线粒体和核基因组稳定性明显紊乱

Direnis Erdinc #, Alejandro Rodríguez-Luis #, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous; Genomics England Research Consortium; Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlo

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

致病性 SLC25A26 变异会损害 SAH 运输活性,从而导致线粒体疾病

Florian A Schober, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz, David Moore, Conrad Smith, David Lewis, Nishan Guha, Sila Hopton, Gavin Falkous, Amanda Lam, Angela Pyle, Joanna Poulton, Gráinne S Gorman, Robert W Taylor, Christoph Freyer, Anna Wredenberg

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

Elwan, Menatalla; Schaefer, Andrew M; Craig, Kate; Hopton, Sila; Falkous, Gavin; Blakely, Emma L; Taylor, Robert W; Warren, Naomi

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。

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

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

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

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

在患有晚发性线粒体 DNA 维护障碍的患者中鉴定出一种新的杂合鸟苷酸还原酶 (GMPR) 变异体

Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, Francesco Bruni, Kyle Thompson, Mariana Rocha, Emma L Blakely, Langping He, Gavin Falkous, Andrew M Schaefer, Patrick Yu-Wai-Man, Patrick F Chinnery, Lizbeth Hedstrom, Antonella Spinazzola, Robert W Taylor, Gráinne S Gorman

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

导致成人发病的线粒体疾病和孤立性复合物 I 缺乏症的新型 MT-ND 基因变异

Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A Hardy, Andrew M Schaefer, Sandip Shaunak, Mark E Roberts, James B Lilleker, Robert W Taylor

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

线粒体 MT-TY 基因中一种新的致病性二核苷酸缺失导致重症肌无力样症状

Albert Z Lim, Grace McMacken, Francesca Rastelli, Monika Oláhová, Karen Baty, Sila Hopton, Gavin Falkous, Ana Töpf, Hanns Lochmüller, Chiara Marini-Bettolo, Robert McFarland, Robert W Taylor

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

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

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

线粒体翻译延长因子 (TSFM) 基因的新型复合突变导致严重的心肌病,并伴有心肌纤维脂肪替代

Elena Perli, Annalinda Pisano, Ruth I C Glasgow, Miriam Carbo, Steven A Hardy, Gavin Falkous, Langping He, Bruna Cerbelli, Maria Gemma Pignataro, Elisabetta Zacara, Federica Re, Paola Lilla Della Monica, Veronica Morea, Penelope E Bonnen, Robert W Taylor, Giulia d'Amati, Carla Giordano