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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.

对具有 TDP-43 病理的 FTLD 患者进行甲基化组分析,可识别出病理亚型特有的表观遗传特征

Vicente Cristina T, Niranjan Tejasvi, Coopman Elise, Faura Júlia, Alidadiani Sara, Schrauwen Claudia, Matchett Billie J, Heeman Bavo, Van den Broeck Marleen, De Coster Wouter, Nguyen Thuy, Lau Julie S, Baheti Saurabh, de Pooter Tim, De Rijk Peter, Strazisar Mojca, Baker Matt, DeJesus-Hernandez Mariely, Finch NiCole A, Pottier Cyril, van Blitterswijk Marka, Asmann Yan, Murray Melissa E, Petrucelli Leonard, King Andrew, Troakes Claire, Al-Sarraj Safa, Rissman Robert A, Hiniker Annie, Flanagan Margaret, Evers Bret M, White Charles L 3rd, Cruchaga Carlos, Castellani Rudolph, van Rooij Jeroen G J, Mol Merel O, Seelaar Harro, van Swieten John C, Oskarsson Björn, Reichard Robert Ross, Nguyen Aivi T, Josephs Keith A, Petersen Ronald C, Ertekin-Taner Nilüfer, Boeve Bradley F, Graff-Radford Neill R, Weckhuysen Sarah, Dickson Dennis W, Rademakers Rosa

Nanopore sequencing enables tissue-of-origin and pathogen detection in plasma cell-free DNA from critically ill patients

纳米孔测序技术能够检测危重患者血浆游离DNA中的组织来源和病原体。

Willemart, Cyril; Strazisar, Mojca; De Pooter, Tim; Stroobants, Tom; Demuyser, Thomas; Jorens, Philippe; Hoste, Eric; Menschaert, Gerben; Vanden Berghe, Tom

The Nutrigenomic Effect of Mela Rosa Marchigiana Callus Extract on Cellular Senescence: Insight From a Preliminary In Vitro Study

玫瑰果愈伤组织提取物对细胞衰老的营养基因组学效应:一项初步体外研究的启示

Rucci, Chiara; Sordini, Enrica; Persico, Giuseppe; Ciurlia, Eugenia; Pappagallo, Noemi; Matacchione, Giulia; Giorgio, Marco; Fraternale, Daniele; Albertini, Maria Cristina; Annear, Dale; De Rijk, Peter; De Pooter, Tim; Strazisar, Mojca; Berghe, Wim Vanden; Bordoni, Laura; Amatori, Stefano; Gabbianelli, Rosita

Genomic insights into the population structure and adaptive variation of Mullus barbatus in the Mediterranean Sea

地中海鲻鱼种群结构和适应性变异的基因组学见解

Massa, Piergiorgio; Leitão, Henrique G; Manousaki, Tereza; Cariani, Alessia; Svardal, Hannes; Tsaparis, Dimitris; Cannas, Rita; Zane, Lorenzo; De Pooter, Tim; Spedicato, Maria Teresa; Strazisar, Mojca; Ciofi, Claudio; Ferrari, Alice; Diedericks, Genevieve; Diroma, Maria Angela; Formenti, Giulio; Ivanova, Petya; Mc Cartney, Ann M; Mouton, Alice; Natali, Chiara; Marino, Ilaria Am; Tsigenopoulos, Costas S

Breaking the pain barrier: implantable intrathecal pump therapy as a game-changer in cancer pain management

突破疼痛壁垒:植入式鞘内泵疗法成为癌症疼痛管理领域的变革者

Potocnik, Iztok; Strazisar, Branka; Lenasi, Helena; Zupanc, Teodora

Effect of administration of vitamin D3 alone or combined with donepezil on the memory of adult and aged ovariectomized rat

单独给予维生素D3或与多奈哌齐联合给予维生素D3对成年和老年卵巢切除大鼠记忆力的影响

Schumacher, Aurelian; Hieke, Alina; Spenner, Marie; Schmitz, Fynn; Sgodzai, Melissa; Klimas, Rafael; Brünger, Jil; Huckemann, Sophie; Motte, Jeremias; Fisse, Anna Lena; Gold, Ralf; Pitarokoili, Kalliopi; Grüter, Thomas; Danielski, Lucineia; Medeiros, Eduarda Behenck; Fenilli, Gabriela Piovesan; Zabot, Gabriel Casagrande; Vargas, Adrielly; Boaventura, Amanda L; Lumertz, Mariana Cardoso; Bobinski, Franciane; Giridharan, Vijayasree V; Barichello, Tatiana; Budni, Josiane; De Deyn, Lara; Duchateau, Lena; Watzeels, Tijs; Vicente, Cristina; Van Dongen, Jasper; Bijnens, Baukje; De Pooter, Tim; De Rijk, Peter; Strazisar, Mojca; Vandenberghe, Wim; Thal, Dietmar Rudolf; Mancuso, Renzo; Rademakers, Rosa; Küçükali, Fahri; Sleegers, Kristel; Danielski, Lucineia; Medeiros, Eduarda Behenck; Zabot, Gabriel Casagrande; Vargas, Adrielly; Fenilli, Gabriela Piovesan; De Jesus, Laura Ceolin; Silveira, Gustavo De Bem; Giridharan, Vijayasree V; Barichello, Tatiana; Budni, Josiane

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

通过长读长测序和光学基因组图谱对未解析的结构变异进行全面表征

De Clercq, Griet; Vantomme, Lies; Dewaele, Barbara; Callewaert, Bert; Vanakker, Olivier; Janssens, Sandra; Loeys, Bart; Strazisar, Mojca; De Coster, Wouter; Vermeesch, Joris Robert; Dheedene, Annelies; Menten, Björn

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review

VIPAS39相关关节挛缩-肾功能障碍-胆汁淤积综合征——病例报告及系统评价

Kafol, Jan; Gnidovec Strazisar, Barbara; Drole Torkar, Ana; Homan, Matjaz; Bertok, Sara; Mlinaric, Matej; Sikonja, Jaka; Kovač, Jernej; Perkovic Benedik, Mirjana; Kersnik Levart, Tanja; Zerjav Tansek, Mojca; Praprotnik, Marina; Battelino, Tadej; Debeljak, Maruša; Groselj, Urh

The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

欧洲参考基因组图谱:试点一种分散式方法以实现公平的生物多样性基因组学研究

Mc Cartney, Ann M; Formenti, Giulio; Mouton, Alice; De Panis, Diego; Marins, Luísa S; Leitão, Henrique G; Diedericks, Genevieve; Kirangwa, Joseph; Morselli, Marco; Salces-Ortiz, Judit; Escudero, Nuria; Iannucci, Alessio; Natali, Chiara; Svardal, Hannes; Fernández, Rosa; De Pooter, Tim; Joris, Geert; Strazisar, Mojca; Wood, Jonathan M D; Herron, Katie E; Seehausen, Ole; Watts, Phillip C; Shaw, Felix; Davey, Robert P; Minotto, Alice; Fernández, José M; Böhne, Astrid; Alegria, Carla; Alioto, Tyler; Alves, Paulo C; Amorim, Isabel R; Aury, Jean-Marc; Backstrom, Niclas; Baldrian, Petr; Baltrunaite, Laima; Barta, Endre; BedHom, Bertrand; Belser, Caroline; Bergsten, Johannes; Bertrand, Laurie; Bilandija, Helena; Binzer-Panchal, Mahesh; Bista, Iliana; Blaxter, Mark; Borges, Paulo A V; Dias, Guilherme Borges; Bosse, Mirte; Brown, Tom; Bruggmann, Rémy; Buena-Atienza, Elena; Burgin, Josephine; Buzan, Elena; Cariani, Alessia; Casadei, Nicolas; Chiara, Matteo; Chozas, Sergio; Čiampor, Fedor Jr; Crottini, Angelica; Cruaud, Corinne; Cruz, Fernando; Dalen, Love; De Biase, Alessio; Del Campo, Javier; Delic, Teo; Dennis, Alice B; Derks, Martijn F L; Diroma, Maria Angela; Djan, Mihajla; Duprat, Simone; Eleftheriadi, Klara; Feulner, Philine G D; Flot, Jean-François; Forni, Giobbe; Fosso, Bruno; Fournier, Pascal; Fournier-Chambrillon, Christine; Gabaldon, Toni; Garg, Shilpa; Gissi, Carmela; Giupponi, Luca; Gomez-Garrido, Jessica; González, Josefa; Grilo, Miguel L; Grüning, Björn; Guerin, Thomas; Guiglielmoni, Nadege; Gut, Marta; Haesler, Marcel P; Hahn, Christoph; Halpern, Balint; Harrison, Peter W; Heintz, Julia; Hindrikson, Maris; Höglund, Jacob; Howe, Kerstin; Hughes, Graham M; Istace, Benjamin; Cock, Mark J; Janžekovič, Franc; Jonsson, Zophonias O; Joye-Dind, Sagane; Koskimäki, Janne J; Krystufek, Boris; Kubacka, Justyna; Kuhl, Heiner; Kusza, Szilvia; Labadie, Karine; Lähteenaro, Meri; Lantz, Henrik; Lavrinienko, Anton; Leclère, Lucas; Lopes, Ricardo Jorge; Madsen, Ole; Magdelenat, Ghislaine; Magoga, Giulia; Manousaki, Tereza; Mappes, Tapio; Marques, Joao Pedro; Redondo, Gemma I Martinez; Maumus, Florian; McCarthy, Shane A; Megens, Hendrik-Jan; Melo-Ferreira, Jose; Mendes, Sofia L; Montagna, Matteo; Moreno, Joao; Mosbech, Mai-Britt; Moura, Mónica; Musilova, Zuzana; Myers, Eugene; Nash, Will J; Nater, Alexander; Nicholson, Pamela; Niell, Manuel; Nijland, Reindert; Noel, Benjamin; Noren, Karin; Oliveira, Pedro H; Olsen, Remi-Andre; Ometto, Lino; Oomen, Rebekah A; Ossowski, Stephan; Palinauskas, Vaidas; Palsson, Snaebjorn; Panibe, Jerome P; Pauperio, Joana; Pavlek, Martina; Payen, Emilie; Pawlowska, Julia; Pellicer, Jaume; Pesole, Graziano; Pimenta, Joao; Pippel, Martin; Pirttilä, Anna Maria; Poulakakis, Nikos; Rajan, Jeena; M C Rego, Rúben; Resendes, Roberto; Resl, Philipp; Riesgo, Ana; Rodin-Morch, Patrik; Soares, Andre E R; Fernandes, Carlos Rodriguez; Romeiras, Maria M; Roxo, Guilherme; Rüber, Lukas; Ruiz-Lopez, Maria Jose; Saarma, Urmas; da Silva, Luis P; Sim-Sim, Manuela; Soler, Lucile; Sousa, Vitor C; Santos, Carla Sousa; Spada, Alberto; Stefanovic, Milomir; Steger, Viktor; Stiller, Josefin; Stöck, Matthias; Struck, Torsten H; Sudasinghe, Hiranya; Tapanainen, Riikka; Tellgren-Roth, Christian; Trindade, Helena; Tukalenko, Yevhen; Urso, Ilenia; Vacherie, Benoit; Van Belleghem, Steven M; Van Oers, Kees; Vargas-Chavez, Carlos; Velickovic, Nevena; Vella, Noel; Vella, Adriana; Vernesi, Cristiano; Vicente, Sara; Villa, Sara; Pettersson, Olga Vinnere; Volckaert, Filip A M; Voros, Judit; Wincker, Patrick; Winkler, Sylke; Ciofi, Claudio; Waterhouse, Robert M; Mazzoni, Camila J