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

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

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

一例散发性克雅氏病中PRNP基因E200D纯合突变的病例报告

Hassan, Ahamad; Campbell, Tracy; Darwent, Lee; Odd, Hans; Green, Alison; Collinge, John; Mead, Simon

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

对路易体痴呆症中导致神经退行性疾病的基因进行分析

Orme, Tatiana; Hernandez, Dena; Ross, Owen A; Kun-Rodrigues, Celia; Darwent, Lee; Shepherd, Claire E; Parkkinen, Laura; Ansorge, Olaf; Clark, Lorraine; Honig, Lawrence S; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Trojanowski, John Q; Serrano, Geidy E; Beach, Thomas G; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Tienari, Pentti J; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F; Petersen, Ronald C; Ferman, Tanis J; Escott-Price, Valentina; Graff-Radford, Neill; Cairns, Nigel J; Morris, John C; Pickering-Brown, Stuart; Mann, David; Halliday, Glenda; Stone, David J; Dickson, Dennis W; Hardy, John; Singleton, Andrew; Guerreiro, Rita; Bras, Jose

Heritability and genetic variance of dementia with Lewy bodies

路易体痴呆症的遗传性和基因变异

Guerreiro, Rita; Escott-Price, Valentina; Hernandez, Dena G; Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana; Neto, Joao Luis; Carmona, Susana; Dehghani, Nadia; Eicher, John D; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Heckman, Michael G; Scholz, Sonja W; Troncoso, Juan C; Pletnikova, Olga; Dawson, Ted; Rosenthal, Liana; Ansorge, Olaf; Clarimon, Jordi; Lleo, Alberto; Morenas-Rodriguez, Estrella; Clark, Lorraine; Honig, Lawrence S; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Serrano, Geidy E; Beach, Thomas G; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Diez-Fairen, Monica; Aguilar, Miquel; Tienari, Pentti J; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F; Petersen, Ronald C; Ferman, Tanis J; Graff-Radford, Neill; Cairns, Nigel J; Morris, John C; Pickering-Brown, Stuart; Mann, David; Halliday, Glenda M; Hardy, John; Trojanowski, John Q; Dickson, Dennis W; Singleton, Andrew; Stone, David J; Bras, Jose