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

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

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

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

亨廷顿病表型模拟综合征再探:临床比较与新一代测序探索

Koriath, Carolin Anna Maria; Guntoro, Fernando; Norsworthy, Penelope; Dolzhenko, Egor; Eberle, Michael; Hensman Moss, Davina J; Flower, Michael; Hummerich, Holger; Rosser, Anne Elizabeth; Tabrizi, Sarah J; Mead, Simon; Wild, Edward J

Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic

巴布亚新几内亚东部高地的人口结构和迁移情况,该地区受库鲁病疫情影响

Quinn, Liam; Whitfield, Jerome; Alpers, Michael P; Campbell, Tracy; Hummerich, Holger; Pomat, William; Siba, Peter; Koki, George; Moltke, Ida; Collinge, John; Hellenthal, Garrett; 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

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

外显子组测序发现ATP8B4和ABCA1基因中的罕见有害变异是阿尔茨海默病风险因素。

Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier-Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G J; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny J; Dols-Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Campion, Dominique; Cochran, J Nicholas; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Farrer, Lindsay A; Fernández, Maria Victoria; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Le Guen, Yann; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Ikram, M Arfan; Ikram, M Kamran; Jansen, Iris E; Kraaij, Robert; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Luckcuck, Lauren; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Morgan, Kevin; Myers, Richard M; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; Rousseau, Stéphane; Ryan, Natalie S; Saad, Salha; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seripa, Davide; Seshadri, Sudha; Sie, Daoud; Sistermans, Erik A; Sorbi, Sandro; van Spaendonk, Resie; Spalletta, Gianfranco; Tesi, Niccolo'; Tijms, Betty; Uitterlinden, André G; van der Lee, Sven J; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Zarea, Aline; Clarimon, Jordi; van Swieten, John C; Greicius, Michael D; Yokoyama, Jennifer S; Cruchaga, Carlos; Hardy, John; Ramirez, Alfredo; Mead, Simon; van der Flier, Wiesje M; van Duijn, Cornelia M; Williams, Julie; Nicolas, Gaël; Bellenguez, Céline; Lambert, Jean-Charles

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

Simultaneous expression of MMB-FOXM1 complex components enables efficient bypass of senescence

MMB-FOXM1复合物成分的同时表达可有效绕过衰老

Ruchi Kumari, Holger Hummerich #, Xu Shen #, Martin Fischer #, Larisa Litovchick, Sibylle Mittnacht, James A DeCaprio, Parmjit S Jat

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

散发性克雅氏病新风险位点的鉴定及致病机制的阐明:一项全基因组关联研究

Jones, Emma; Hummerich, Holger; Viré, Emmanuelle; Uphill, James; Dimitriadis, Athanasios; Speedy, Helen; Campbell, Tracy; Norsworthy, Penny; Quinn, Liam; Whitfield, Jerome; Linehan, Jacqueline; Jaunmuktane, Zane; Brandner, Sebastian; Jat, Parmjit; Nihat, Akin; How Mok, Tze; Ahmed, Parvin; Collins, Steven; Stehmann, Christiane; Sarros, Shannon; Kovacs, Gabor G; Geschwind, Michael D; Golubjatnikov, Aili; Frontzek, Karl; Budka, Herbert; Aguzzi, Adriano; Karamujić-Čomić, Hata; van der Lee, Sven J; Ibrahim-Verbaas, Carla A; van Duijn, Cornelia M; Sikorska, Beata; Golanska, Ewa; Liberski, Pawel P; Calero, Miguel; Calero, Olga; Sanchez-Juan, Pascual; Salas, Antonio; Martinón-Torres, Federico; Bouaziz-Amar, Elodie; Haïk, Stéphane; Laplanche, Jean-Louis; Brandel, Jean-Phillipe; Amouyel, Phillipe; Lambert, Jean-Charles; Parchi, Piero; Bartoletti-Stella, Anna; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Pocchiari, Maurizio; Aneli, Serena; Matullo, Giuseppe; Knight, Richard; Zafar, Saima; Zerr, Inga; Booth, Stephanie; Coulthart, Michael B; Jansen, Gerard H; Glisic, Katie; Blevins, Janis; Gambetti, Pierluigi; Safar, Jiri; Appleby, Brian; Collinge, John; Mead, Simon

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study

一项大型国际研究表明,PLCXD3 变异与变异型或散发型克雅氏病无关。

Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon