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

Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

脑脊液中的可溶性 SorLA 是一种新型生物标志物,可用于探索阿尔茨海默病中 SorLA 蛋白运输的紊乱

Castelot Romain, Zarea Aline, Wallon David, Rovelet-Lecrux Anne, Schramm Catherine, Quillard-Muraine Muriel, Beaume Anne, Blanc Frédéric, Bousiges Olivier, Dumurgier Julien, Formaglio Maïté, Leguyader Gwenael, Lehmann Sylvain, Marelli Cecilia, Martinet Matthieu, Nogueira Leonor, Pariente Jérémie, Quadrio Isabelle, Rollin-Sillaire Adeline, Schraen Susanna, Nicolas Gaël, Lecourtois Magalie

Input of exome sequencing in early-onset cerebral amyloid angiopathy

外显子组测序在早发性脑淀粉样血管病中的应用

Grangeon, Lou; Charbonnier, Camille; Rousseau, Stéphane; Richard, Anne Claire; Quenez, Olivier; Zarea, Aline; Boland, Anne; Olaso, Robert; Deleuze, Jean-François; Tournier-Lasserve, Elisabeth; Nicolas, Gael; Wallon, David

Phenotype and imaging features associated with APP duplications

与APP基因重复相关的表型和影像学特征

Grangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cécile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Antérion, Catherine; Godeneche, Gaelle; Sauvée, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valérie; Jonveaux, Therèse; Balageas, Anna-Chloé; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gaël; Wallon, David

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