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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观遗传特征作为Diamond-Blackfan贫血综合征的新型诊断工具

Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo

Association between comorbid anxiety and depression symptomatology, quality of life, social support and use of mental health services in youth from Bogota, Buenos Aires, and Lima

波哥大、布宜诺斯艾利斯和利马青年焦虑和抑郁症状共病、生活质量、社会支持和心理健康服务利用之间的关联

Vilela-Estrada, Ana L; Lazo-Porras, Maria; Bernabe-Ortiz, Antonio; Priebe, Stefan; Bird, Victoria J; Ariza-Salazar, Karen; Sureshkumar, Diliniya Stanislaus; Godoy-Casasbuenas, Natalia; Gómez-Restrepo, Carlos; Olivar, Natividad; Madero, Sofia; Brusco, Luis Ignacio; Diez-Canseco, Francisco

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

Mitochondrial dysfunction and Ca(2+) dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism.

携带早老素-1突变的人类iPSC衍生神经元在应激下通过MCU-1非依赖性机制出现线粒体功能障碍和Ca(2+)失调。

Wilson Carlos, Galeano Pablo, Remedi María Mónica, Novack Gisela Vanina, Campanelli Lorenzo, Gastaldi Laura, Miglietta Esteban, Rossi Andres Hugo, Olivar Natividad, Brusco Luis Ignacio, Castaño Eduardo Miguel, Cáceres Alfredo, Morelli Laura

Aging disrupts the temporal organization of slow oscillations beyond density reduction

衰老除了降低密度外,还会扰乱缓慢振荡的时间组织。

Capurro, Lucila; Radloff, Michael; González, María C; Gorosito, María L; Brusco, Luis I; Ramele, Rodrigo; Forcato, Cecilia

Protocol for evaluation of Movember's scaling what works grant funding program: Supporting the delivery of mental health interventions for men & boys in Australia, Canada and the United Kingdom

Movember“扩大有效做法”资助计划评估方案:支持在澳大利亚、加拿大和英国为男性和男孩提供心理健康干预措施

Steele, Thomas; Ang, Chloe; Rose, Vanessa; Kembhavi, Gayatri; Rowland, Jamie; Abdo, Maryanna; Kwok, Janell; Young, Katherine; Merryfull, Sophie; Whittaker, Sara; Brusco, Natasha; Watt, Rhiannon; Büsst, Cara

Unveiling the Leishmanicidal Mechanism of 4-Nerolidylcatechol Isolated From Piper peltatum Against Leishmania infantum

揭示从胡椒属植物Piper peltatum中分离得到的4-橙花酰基儿茶酚对婴儿利什曼原虫的杀灭机制

Lorenzetti, Fabiana Brusco; Balbinot, Rodolfo Bento; Lazarin-Bidóia, Danielle; Faiões, Viviane Dos Santos; Torres-Santos, Eduardo Caio; Nakamura, Celso Vataru; Ueda-Nakamura, Tânia; Garcia Cortez, Diógenes Aparício; Dias Filho, Benedito Prado

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations

拉丁美洲混血人群中阿尔茨海默病和额颞叶痴呆的遗传因素

Acosta-Uribe, Juliana; Piña-Escudero, Stefanie D; Cochran, J Nicholas; Taylor, Jared W; Castruita, P Alejandra; Jonson, Caroline; Barinaga, Erin A; Roberts, Kevin; Levine, Alexandra R; George, Dawwod S; Ávila-Funes, José Alberto; Behrens, María I; Bruno, Martín A; Brusco, Luis I; Custodio, Nilton; Durán-Aniotz, Claudia; Lopera, Francisco; Matallana, Diana L; Slachevsky, Andrea; Takada, Leonel T; Zapata-Restrepo, Lina M; Durón-Reyes, Dafne E; de Paula França Resende, Elisa; Gómez, Luisa F; Gelvez, Nancy; Bistue, M Beatriz; Godoy, Maria E; Maito, Marcelo A; Javandel, Shireen; Miller, Bruce L; Nalls, Mike A; Leonard, Hampton; Vitale, Dan; Bandres-Ciga, Sara; Koretsky, Mathew J; Singleton, Andrew B; Pantazis, Caroline B; Valcour, Victor; Ibañez, Agustin; Kosik, Kenneth S; Yokoyama, Jennifer S

Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations

欧洲人群阿尔茨海默病多基因风险评分在不同族裔人群中的适用性

Nicolas, Aude; Sherva, Richard; Grenier-Boley, Benjamin; Kim, Yoontae; Kikuchi, Masataka; Timsina, Jigyasha; de Rojas, Itziar; Dalmasso, María Carolina; Zhou, Xiaopu; Le Guen, Yann; Arboleda-Bustos, Carlos E; Camargos Bicalho, Maria Aparecida; Guerchet, Maëlenn; van der Lee, Sven; Goss, Monica; Castillo, Atahualpa; Bellenguez, Céline; Küçükali, Fahri; Satizabal, Claudia L; Fongang, Bernard; Yang, Qiong; 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; Cao, Han; Ip, Nancy Y; Fu, Amy K Y; Ip, Fanny C F; Olivar, Natividad; Muchnik, Carolina; Cuesta, Carolina; Campanelli, Lorenzo; Solis, Patricia; Politis, Daniel Gustavo; Kochen, Silvia; Brusco, Luis Ignacio; Boada, Mercè; García-González, Pablo; Puerta, Raquel; Mir, Pablo; Real, Luis M; Piñol-Ripoll, Gerard; García-Alberca, Jose María; Royo, Jose Luís; Rodriguez-Rodriguez, Eloy; Soininen, Hilkka; Heikkinen, Sami; de Mendonça, Alexandre; Mehrabian, Shima; Traykov, Latchezar; Hort, Jakub; Vyhnalek, Martin; Rasmussen, Katrine Laura; Thomassen, Jesper Qvist; Pijnenburg, Yolande A L; Holstege, Henne; van Swieten, John C; Seelaar, Harro; Claassen, Jurgen A H R; Jansen, Willemijn J; Ramakers, Inez; Verhey, Frans; van der Lugt, Aad; Scheltens, Philip; Ortega-Rojas, Jenny; Concha Mera, Ana Gabriela; Mahecha, Maria F; Pardo, Rodrigo; Arboleda, Gonzalo; Bahrami, Shahram; Fominykh, Vera; Selbæk, Geir; Graff, Caroline; Papenberg, Goran; Giedraitis, Vilmantas; Boland, Anne; Deleuze, Jean-François; de Marco, Luiz Armando; de Moraes, Edgar Nunes; de Mattos Viana, Bernardo; Túlio Gualberto Cintra, Marco; Juarez-Cedillo, Teresa; Griswold, Anthony J; Forund, Tatiana; Haines, Jonathan; Farrer, Lindsay; DeStefano, Anita; Wijsman, Ellen; Mayeux, Richard; Pericak-Vance, Margaret; Kunkle, Brian; Goate, Alison; Schellenberg, Gerard D; Vardarajan, Badri; Wang, Li-San; Leung, Yuk Yee; Dalgard, Clifton L; Nicolas, Gael; Wallon, David; Dufouil, Carole; Pasquier, Florence; Hanon, Olivier; Debette, Stéphanie; Grünblatt, Edna; Popp, Julius; Angel, Bárbara; Gloger, Sergio; Chacon, Maria Victoria; Aranguiz, Rafael; Orellana, Paulina; Slachevsky, Andrea; Gonzalez-Billault, Christian; Albala, Cecilia; Fuentes, Patricio; Sachdev, Perminder; Mather, Karen A; Hauger, Richard L; Merritt, Victoria; Panizzon, Matthew; Zhang, Rui; Gaziano, J Michael; Ghidoni, Roberta; Galimberti, Daniela; Arosio, Beatrice; Mecocci, Patrizia; Solfrizzi, Vincenzo; Parnetti, Lucilla; Squassina, Alessio; Tremolizzo, Lucio; Borroni, Barbara; Nacmias, Benedetta; Caffarra, Paolo; Seripa, Davide; Rainero, Innocenzo; Daniele, Antonio; Piras, Fabrizio; Leonard, Hampton L; Yokoyama, Jenifer S; Nalls, Mike A; Miyashita, Akinori; Hara, Norikazu; Ozaki, Kouichi; Niida, Shumpei; Williams, Julie; Masullo, Carlo; Amouyel, Philippe; Preux, Pierre-Marie; Mbelesso, Pascal; Bandzouzi, Bébène; Saykin, Andy; Jessen, Frank; Kehoe, Patrick G; Van Duijn, Cornelia; Ben Salem, Nesrine; Frikke-Schmidt, Ruth; Cherni, Lotfi; Greicius, Michael D; Tsolaki, Magda; Sánchez-Juan, Pascual; Romano Silva, Marco Aurélio; Porter, Tenielle; Laws, Simon M; Sleegers, Kristel; Ingelsson, Martin; Dartigues, Jean-François; Seshadri, Sudha; Rossi, Giacomina; Morelli, Laura; Hiltunen, Mikko; Sims, Rebecca; van der Flier, Wiesje; Andreassen, Ole A; Arboleda, Humberto; Cruchaga, Carlos; Escott-Price, Valentina; Ruiz, Agustín; Lee, Kun Ho; Ikeuchi, Takeshi; Ramirez, Alfredo; Gim, Jungsoo; Logue, Mark; Lambert, Jean-Charles