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

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

多组学分析为克雅氏病风险基因的假设提供直接依据

Küçükali, Fahri; Hill, Elizabeth; Watzeels, Tijs; Hummerich, Holger; Campbell, Tracy; Darwent, Lee; Collins, Steven; Stehmann, Christiane; Kovacs, Gabor G; Geschwind, Michael D; Frontzek, Karl; Budka, Herbert; Gelpi, Ellen; Aguzzi, Adriano; van der Lee, Sven J; van Duijn, Cornelia M; Liberski, Pawel P; Calero, Miguel; Sanchez-Juan, Pascual; Bouaziz-Amar, Elodie; Laplanche, Jean-Louis; Haïk, Stéphane; Brandel, Jean-Phillipe; Mammana, Angela; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Tiple, Dorina; Zafar, Saima; Booth, Stephanie; Jansen, Gerard H; Areškevičiūtė, Aušrinė; Lund, Eva Løbner; Glisic, Katie; Parchi, Piero; Hermann, Peter; Zerr, Inga; Safar, Jiri; Gambetti, Pierluigi; Appleby, Brian S; Collinge, John; Sleegers, Kristel; Mead, Simon

PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.

PRNP E146G 突变遗传性朊病毒病:独特的临床、病理和体液生物标志物特征

Coysh Thomas, Jaunmuktane Zane, Hosszu Laszlo L P, Majbour Nour, Zhang Fuquan, Campbell Tracy, Darwent Lee, Matus Marcelo Barria, Chan Edgar, Holm-Mercer Leah, Mok Tze How, Wadsworth Jonathan D F, Bieschke Jan, Nithi Kannan, Brandner Sebastian, Smith Colin, Esiri Margaret, Collinge John, Mead Simon

Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157

由PRNP基因新型移码突变引起的遗传性朊病毒病,导致第157位密码子处蛋白质截断。

Holm-Mercer, Leah; Mok, Tze How; Sequeira, Danielle; Coysh, Thomas; Rudge, Peter; Ramadan, Hawraman; Darwent, Lee; Campbell, Tracy; Murphy, Thomas; Smith, Colin; Ritchie, Diane; Brandner, Sebastian; Jaunmuktane, Zane; Collinge, John; Mead, Simon

Genome wide association study of clinical duration and age at onset of sporadic CJD

散发性克雅氏病临床病程和发病年龄的全基因组关联研究

Hummerich, Holger; Speedy, Helen; Campbell, Tracy; Darwent, Lee; Hill, Elizabeth; Collins, Steven; Stehmann, Christiane; Kovacs, Gabor G; Geschwind, Michael D; Frontzek, Karl; Budka, Herbert; Gelpi, Ellen; Aguzzi, Adriano; van der Lee, Sven J; van Duijn, Cornelia M; Liberski, Pawel P; Calero, Miguel; Sanchez-Juan, Pascual; Bouaziz-Amar, Elodie; Laplanche, Jean-Louis; Haïk, Stéphane; Brandel, Jean-Phillipe; Mammana, Angela; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Pocchiari, Maurizio; Zafar, Saima; Booth, Stephanie; Jansen, Gerard H; Areškevičiūtė, Aušrinė; Løbner Lund, Eva; Glisic, Katie; Parchi, Piero; Hermann, Peter; Zerr, Inga; Appleby, Brian S; Safar, Jiri; Gambetti, Pierluigi; Collinge, John; Mead, Simon

Reducing the Number of Intrusive Memories of Work-Related Traumatic Events in Frontline Health Care Staff During the COVID-19 Pandemic: Case Series

减少新冠疫情期间一线医护人员工作相关创伤事件的侵入性记忆:病例系列研究

Kubickova, Veronika; Steel, Craig; Moulds, Michelle L; Kanstrup, Marie; Beer, Sally; Darwent, Melanie; Keating, Liza; Holmes, Emily A; Iyadurai, Lalitha

Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease

有患朊病毒病风险的个体的种子扩增和神经退行性标志物轨迹

Tze How Mok, Akin Nihat, Nour Majbour, Danielle Sequeira, Leah Holm-Mercer, Thomas Coysh, Lee Darwent, Mark Batchelor, Bradley R Groveman, Christina D Orr, Andrew G Hughson, Amanda Heslegrave, Rhiannon Laban, Elena Veleva, Ross W Paterson, Ashvini Keshavan, Jonathan M Schott, Imogen J Swift, Carolin

Dispersive transport dynamics in porous media emerge from local correlations

多孔介质中的弥散输运动力学源于局部相关性

Meigel, Felix J; Darwent, Thomas; Bastin, Leonie; Goehring, Lucas; Alim, Karen

DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt-Jakob disease

克雅氏病存档淋巴网状组织DNA甲基化分析

Guntoro, Fernando; Viré, Emmanuelle; Giordani, Chiara; Darwent, Lee; Hummerich, Holger; Linehan, Jacqueline; Sinka, Katy; Jaunmuktane, Zane; Brandner, Sebastian; Collinge, John; Mead, Simon

Estimation of the number of inherited prion disease mutation carriers in the UK

英国遗传性朊病毒病突变携带者人数估计

Corbie, Rosie; Campbell, Tracy; Darwent, Lee; Rudge, Peter; Collinge, John; Mead, Simon

Prion protein gene mutation detection using long-read Nanopore sequencing

利用长读长纳米孔测序检测朊病毒蛋白基因突变

Kroll, François; Dimitriadis, Athanasios; Campbell, Tracy; Darwent, Lee; Collinge, John; Mead, Simon; Vire, Emmanuelle