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

Increased genetic protection against Alzheimer's disease in centenarians

百岁老人体内针对阿尔茨海默病的遗传保护作用增强

Bae, Harold; Song, Zeyuan; Ali, Amanat; Sasaki, Takashi; Tesi, Niccolò; Lords, Hannah; Leshchyk, Anastasia; Abe, Yukiko; Hirose, Nobuyoshi; Arai, Yasumichi; Barzilai, Nir; Weiss, Erica F; Hulsman, Marc; van der Lee, Sven; van Schoor, Natasja M; Huisman, Martijn; Pijnenburg, Yolande; van der Flier, Wiesje; Reinders, Marcel; Holstege, Henne; Milman, Sofiya; Perls, Thomas T; Andersen, Stacy L; Sebastiani, Paola

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks.

非小胶质细胞中 PLCG2 的下调会损害突触功能,并引发阿尔茨海默病相关的特征。

Coulon Audrey, Rabiller Florian, Takalo Mari, Roy Avishek, Pelletier Alexandre, Martiskainen Henna, Siedlecki-Wullich Dolores, Lannette-Weimann Nina, Majerníková Nad'a, Grenon Arthur, Gao Vance, Erhardt Anaël, Pernodet Anne, Lemaire Morgane, Limoge Floriane, Walle Pauline, Mendes Tiago, Guyot Karine, Lemeu Célia, Carvalho Lukas-Iohan, de Farias Ana Raquel Melo, Hulsman Marc, Najdek Chloé, Freire-Regatillo Alejandra, Saha Orthis, Amouyel Philippe, Charbonnier Camille, Deleuze Jean-François, Dols-Icardo Orio, Jeskanen Heli, Willman Roosa-Maria, Kuulasmaa Teemu, Kurki Mitja, Hardy John, Heikkinen Sami, Holstege Henne, Mäkinen Petra, Nicolas Gaël, Mead Simon, Wagner Michael, Ramirez Alfredo, Rauramaa Tuomas, Palotie Aarno, Sims Rebecca, Soininen Hilkka, van Swieten John, Williams Julie, Bellenguez Céline, Gelle Carla, Lambert Erwan, Costa Marcos R, Tcw Julia, Glaab Enrico, Ayral Anne-Marie, Demiautte Florie, Grenier-Boley Benjamin, Muntaner Manon, Eberlé Delphine, Deforges Séverine, Haas Joel, Kilinc Devrim, Mulle Christophe, Chapuis Julien, Hiltunen Mikko, Dumont Julie, Lambert Jean-Charles

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

Machine learning in Alzheimer's disease genetics

机器学习在阿尔茨海默病遗传学中的应用

Bracher-Smith, Matthew; Melograna, Federico; Ulm, Brittany; Bellenguez, Céline; Grenier-Boley, Benjamin; Duroux, Diane; Nevado, Alejo J; Holmans, Peter; Tijms, Betty M; Hulsman, Marc; de Rojas, Itziar; Campos-Martin, Rafael; der Lee, Sven van; Castillo, Atahualpa; Küçükali, Fahri; Peters, Oliver; Schneider, Anja; Dichgans, Martin; Rujescu, Dan; Scherbaum, Norbert; Deckert, Jürgen; Riedel-Heller, Steffi; Hausner, Lucrezia; Molina-Porcel, Laura; Düzel, Emrah; Grimmer, Timo; Wiltfang, Jens; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Tegos, Thomas; Scarmeas, Nikolaos; Dols-Icardo, Oriol; Moreno, Fermin; Pérez-Tur, Jordi; Bullido, María J; Pastor, Pau; Sánchez-Valle, Raquel; Álvarez, Victoria; Boada, Mercè; García-González, Pablo; Puerta, Raquel; Mir, Pablo; Real, Luis M; Piñol-Ripoll, Gerard; García-Alberca, Jose María; Rodriguez-Rodriguez, Eloy; Soininen, Hilkka; Heikkinen, Sami; de Mendonça, Alexandre; Mehrabian, Shima; Traykov, Latchezar; Hort, Jakub; Vyhnalek, Martin; Sandau, Nicolai; Thomassen, Jesper Qvist; Pijnenburg, Yolande A L; Holstege, Henne; van Swieten, John; Ramakers, Inez; Verhey, Frans; Scheltens, Philip; Graff, Caroline; Papenberg, Goran; Giedraitis, Vilmantas; Williams, Julie; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Nicolas, Gael; Dufouil, Carole; Pasquier, Florence; Hanon, Olivier; Debette, Stéphanie; Grünblatt, Edna; Popp, Julius; Ghidoni, Roberta; Galimberti, Daniela; Arosio, Beatrice; Mecocci, Patrizia; Solfrizzi, Vincenzo; Parnetti, Lucilla; Squassina, Alessio; Tremolizzo, Lucio; Borroni, Barbara; Wagner, Michael; Nacmias, Benedetta; Spallazzi, Marco; Seripa, Davide; Rainero, Innocenzo; Daniele, Antonio; Piras, Fabrizio; Masullo, Carlo; Rossi, Giacomina; Jessen, Frank; Kehoe, Patrick; Magda, Tsolaki; Sánchez-Juan, Pascual; Sleegers, Kristel; Ingelsson, Martin; Hiltunen, Mikko; Sims, Rebecca; van der Flier, Wiesje; Andreassen, Ole A; Ruiz, Agustín; Ramirez, Alfredo; Frikke-Schmidt, Ruth; Amin, Najaf; Roshchupkin, Gennady; Lambert, Jean-Charles; Van Steen, Kristel; van Duijn, Cornelia; Escott-Price, Valentina

AD-related plasma biomarkers in centenarians: links to cognition and neuropathology

百岁老人血浆中与阿尔茨海默病相关的生物标志物:与认知和神经病理学的联系

Lorenz, Linda M C; Rohde, Susan K; Luimes, Maruelle C; Rozemuller, Annemieke J M; Bank, Netherlands Brain; Hulsman, Marc; Graat, Marieke J I; van der Hoorn, Myke E; Daatselaar, Dominique A H; Gouda, Mariam; Hoozemans, Jeroen J M; Sikkes, Sietske A M; Teunissen, Charlotte E; Holstege, Henne

Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic

记忆诊所就诊患者中致病变异的患病率及基因检测资格标准

Van Der Lee, Sven J; Hulsman, Marc; Van Spaendonk, Rosalina; Van Der Schaar, Jetske; Dijkstra, Janna; Tesi, Niccoló; van Ruissen, Fred; Elting, Mariet; Reinders, Marcel; De Rojas, Itziar; Verschuuren-Bemelmans, Corien C; Van Der Flier, Wiesje M; van Haelst, Mieke M; de Geus, Christa; Pijnenburg, Yolande; Holstege, Henne

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

UNC13A多态性影响额颞叶痴呆患者的生存期

Reus, Lianne M; Willemse, Sean W; de Boer, Sterre C M; De Houwer, Julie; Hartog, Willem L; Mol, Merel O; van Rooij, Jeroen G J; Tesi, Niccolo; Donker Kaat, Laura; Hulsman, Marc; Vijverberg, Everard G B; Holstege, Henne; van Rheenen, Wouter; Veldink, Jan H; van den Berg, Leonard H; van Swieten, John C; Seelaar, H; van der Lee, Sven J; van Es, Michael A; Pijnenburg, Yolande A L

TREM2 risk variants and associated endophenotypes in alzheimer's disease

阿尔茨海默病中TREM2风险变异及其相关内表型

Dijkstra, Janna I R; Vermunt, Lisa; Venkatraghavan, Vikram; Ozhegov, Georgii; Coomans, Emma M; Ossenkoppele, Rik; van de Giessen, Elsmarieke; Hulsman, Marc; de Geus, Christa M; van der Flier, Wiesje M; Sikkes, Sietske A M; Barkhof, Frederik; Tijms, Betty; Gouw, Alida A; de Haan, Willem; Vijverberg, Everard G B; Pijnenburg, Yolande A L; Holstege, Henne; Teunissen, Charlotte E; van der Lee, Sven J

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic

记忆门诊痴呆症患者常见及罕见变异的基因检测:记忆门诊痴呆症相关基因检测

de Rojas, Itziar; Hulsman, Marc; Tesi, Niccoló; van Spaendonk, Rosalina M L; van der Schaar, Jetske; Dijkstra, Janna I R; van der Flier, Wiesje M; van Ruissen, Fred; Jansen, Philip R; Reinders, Marcel T; van Haelst, Mieke M; Pijnenburg, Yolande A L; Fernandez, Maria Victoria; Ruiz, Agustín; Holstege, Henne H; van der Lee, Sven J

Multisample motif discovery and visualization for tandem repeats

串联重复序列的多样本基序发现和可视化

Zhang, Yaran; Hulsman, Marc; Salazar, Alex; Tesi, Niccolò; Knoop, Lydian; van der Lee, Sven; Wijesekera, Sanduni; Krizova, Jana; Kamsteeg, Erik-Jan; Holstege, Henne