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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Skin-derived myeloid precursors and joint-resident fibroblasts spread psoriatic disease from skin to joints

皮肤来源的髓系前体细胞和关节驻留成纤维细胞将银屑病从皮肤扩散到关节。

Raimondo, Maria G; Mohammadian, Hashem; Angeli, Mario R; Alivernini, Stefano; Fedorchenko, Vladyslav; Huang, Kaiyue; Demmler, Richard; Rhein, Peter; Xu, Cong; Li, Yi-Nan; Micheroli, Raphael; Winter, Zoltán; Rigau, Aleix Rius; Anchang, Charles G; Soare, Alina; Luber, Markus; Labinsky, Hannah; Chang, Jiyang; Günther, Claudia; Fearon, Ursula; Veale, Douglas J; Ciccia, Francesco; Rech, Jürgen; Sticherling, Michael; Bäuerle, Tobias; Distler, Jörg H W; Kurowska-Stolarska, Mariola S; Mack, Matthias; Ekici, Arif B; Croft, Adam P; Distler, Oliver; Maric, Hans M; Ospelt, Caroline; Cañete, Juan D; D'Agostino, Maria A; Schett, Georg; Rauber, Simon; Ramming, Andreas

Efficacy and safety evaluation of HyperSperm treatment in human semen samples

HyperSperm治疗在人类精液样本中的疗效和安全性评价

Martinez-Vallejo, Maria J; Carrasquel-Martínez, Gabriela; Artigues, Raúl Noblom; Lattes, Karinna; Varea, Rafael Lafuente; Mas, Mariona Rius; Guirado, Sara Rodríguez; Ibáñez, Elena; Gómez-Elías, Matías D; Buffone, Mariano G

Lab-on-a-Chip Metabolic Analysis Using Benchtop NMR Technology

利用台式核磁共振技术进行芯片实验室代谢分析

Azagra, Marc; Patel, Hetal; Portela, Alejandro; Weerakonda, Dian; Aghelnejad, Behdad; Yeste, Jose; Matajsz, Gergő; Dubois, Marc; Fallon, Matthew; Antonakakis, Tryfon; Ramón-Azcón, Javier; Marco-Rius, Irene

Divergent macrophage responses to Influenza A virus and Streptococcus pneumoniae: co-infection drives bacterial dominance whereas superinfection favors viral priming

巨噬细胞对甲型流感病毒和肺炎链球菌的反应存在差异:合并感染导致细菌优势,而叠加感染则有利于病毒启动。

Arranz-Herrero, Javier; Baranda, Jana; Rius-Rocabert, Sergio; Moreno-Vadillo, Mikel; Gonzalez-Ruiz, Ivan; Miranda-Bedate, Alberto; Pinelli, Elena; Inchausti-Moya, Ines; Izpura-Luis, Sara; Tur-Planells, Vicent; Reche, Paloma; Fernandez, Paloma; Revilla, Yolanda; Del Real, Gustavo; García-Sastre, Adolfo; Gutiérrez-Martín, César B; Ochando, Jordi; Nistal-Villan, Estanislao

PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development

PKD1 5'UTR变异是ADPKD中一种罕见的致病因素,提示了治疗研发的新方向。

Wedd, Laura; Hort, Yvonne; Patel, Chirag; Sayer, John A; Rius, Rocio; Mallett, Andrew J; Cottle, Denny L; Smyth, Ian M; Furlong, Timothy; Shine, John; Mallawaarachchi, Amali

A graphene-on-silicon photodetector for low penetrating radiation

一种用于低穿透辐射的石墨烯硅光电探测器

Moffat, Neil; Oton, Jose Alfonso Soto; Rius, Gemma; Cabruja, Enric; Pellegrini, Giulio

Clinical Benefits of 4D-DSA for Analyzing the Angioarchitecture of Brain AVMs Compared with Traditional DSA Techniques: A Systematic and Critical Review of the Literature

4D-DSA在分析脑动静脉畸形血管结构方面与传统DSA技术相比的临床优势:文献的系统性批判性综述

Li, Mengxing; Elhorany, Mahmoud; Shotar, Eimad; Premat, Kévin; Lenck, Stéphanie; Chiaroni, Pierre-Marie; Allard, Julien; Rius, Emily; Boch, Anne-Laure; Degos, Vincent; Sourour, Nader-Antoine; Clarençon, Frédéric

Tuberculosis outbreak in a pre-primary and primary school in Barcelona, Spain

西班牙巴塞罗那一所幼儿园和小学爆发结核病疫情

Prieto-García, Raquel; Millet, Joan Pau; Broto, Claudia; Lara, Elisa; Espiau, María; Soriano-Arandes, Antoni; de Souza-Galvão, Maria-Luiza; Jiménez-Fuentes, Ma Angeles; Domingo, Cristina; Vileu Vallverdú, Rosa Mercè; Saludes, Verónica; Bordoy, Antoni E; Hesketh-Best, Poppy J; Panisello Yagüe, David; Martró, Elisa; Gavaldà Mestre, Laura; Sicart Torres, Elisabet; Martínez Alguacil, Helena; López Espinilla, Mar; Cardona, Pere-Joan; Simón, Pere; Rius, Cristina