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

Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease

绘制线粒体形态和功能图谱:COX-SBFSEM揭示线粒体疾病的模式

Faitg, Julie; Davey, Tracey; Laws, Ross; Lawless, Conor; Tuppen, Helen; Fitton, Eric; Turnbull, Doug; Vincent, Amy E

Quantifying variability of mitochondrial markers in m3243A > G myopathy

量化m3243A>G肌病中线粒体标志物的变异性

Bernardino Gomes, Tiago M; Childs, Jordan B; Di Leo, Valeria; Warren, Charlotte; Hudson, Gavin; Turnbull, Doug M; Lawless, Conor; Vincent, Amy E

Endocrine Manifestations and New Developments in Mitochondrial Disease

线粒体疾病的内分泌表现和新进展

Ng, Yi Shiau; Lim, Albert Zishen; Panagiotou, Grigorios; Turnbull, Doug M; Walker, Mark

Forecasting stroke-like episodes and outcomes in mitochondrial disease

预测线粒体疾病中类似中风的发作和预后

Ng, Yi Shiau; Lax, Nichola Z; Blain, Alasdair P; Erskine, Daniel; Baker, Mark R; Polvikoski, Tuomo; Thomas, Rhys H; Morris, Christopher M; Lai, Ming; Whittaker, Roger G; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G; Pitceathly, Robert D S; Taylor, Robert W; Blakely, Emma L; Schaefer, Andrew M; Turnbull, Doug M; McFarland, Robert; Gorman, Gráinne S

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

莱氏综合征的自然史:疾病负担和进展研究

Lim, Albert Z; Ng, Yi Shiau; Blain, Alasdair; Jiminez-Moreno, Cecilia; Alston, Charlotte L; Nesbitt, Victoria; Simmons, Louise; Santra, Saikat; Wassmer, Evangeline; Blakely, Emma L; Turnbull, Doug M; Taylor, Robert W; Gorman, Gráinne S; McFarland, Robert

Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation

线粒体复合物I亚基缺乏促进胰岛α细胞增殖

Yu, Xuefei; Arden, Catherine; Berlinguer-Palmini, Rolando; Chen, Chun; Bradshaw, Carla; Smith, Anna Lm; Whitehall, Julia; White, Michael; Anderson, Scott; Kattner, Nicole; Shaw, James; Turnbull, Doug; Greaves, Laura C; Walker, Mark

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline

最常见的致病性线粒体DNA变异m.3243A>G的动态变化在血液中表现出频率依赖性,而在生殖细胞中则表现出正向选择。

Franco, Melissa; Pickett, Sarah J; Fleischmann, Zoe; Khrapko, Mark; Cote-L'Heureux, Auden; Aidlen, Dylan; Stein, David; Markuzon, Natasha; Popadin, Konstantin; Braverman, Maxim; Woods, Dori C; Tilly, Jonathan L; Turnbull, Doug M; Khrapko, Konstantin

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder

m.3243A>G 线粒体疾病成人患者的心律失常患病率和猝死风险

Bourke, John P; Ng, Yi Shiau; Tynan, Margaret; Bates, Matthew G D; Mohiddin, Saidi; Turnbull, Doug; Gorman, Grainne S

Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease

低渣(纤维)饮食对线粒体疾病成年患者的疗效、耐受性和肠道菌群影响的II期可行性研究

Houghton, David; Ng, Yi Shiau; Jackson, Matthew A; Stefanetti, Renae; Hynd, Paula; Mac Aogáin, Micheál; Stewart, Christopher J; Lamb, Christopher A; Bright, Alexandra; Feeney, Catherine; Newman, Jane; Turnbull, Doug M; McFarland, Robert; Blain, Alasdair P; Gorman, Gráinne S

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

10万基因组计划在医疗保健领域罕见病诊断方面的试点项目——初步报告

Smedley, Damian; Smith, Katherine R; Martin, Antonio; Thomas, Ellen A; McDonagh, Ellen M; Cipriani, Valentina; Ellingford, Jamie M; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmström, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Gräf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L T; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Wright, Caroline F; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J; Humphray, Sean J; Robinson, Peter N; Haendel, Melissa; Simpson, Michael A; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B; O'Keefe, Raymond T; Michaelides, Michel; Moore, Anthony T; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C; Straub, Volker; Gorman, Gráinne S; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M; Yu-Wai-Man, Patrick; Turnbull, Doug M; McFarland, Robert; Taylor, Robert W; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R; Polke, James; Wood, Nicholas W; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Németh, Andrea H; Palles, Claire; Patel, Smita; Roy, Noemi B A; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O; Seaby, Eleanor G; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I Karen; Mumford, Andrew D; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R; Brennan, Paul; Burn, John; Chinnery, Patrick F; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A; Taylor, Jenny C; Webster, Andrew R; Wilkie, Andrew O M; Ouwehand, Willem H; Raymond, F Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H; Fowler, Tom; Rendon, Augusto; Caulfield, Mark