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

Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network

VEXAS综合征中反复发热与严重器官受累、死亡率和治疗结果的相关性:来自AIDA网络的数据

Caggiano, Valeria; Sbalchiero, Jessica; Frassi, Micol; Crisafulli, Francesca; Cavazzana, Ilaria; Hinojosa-Azaola, Andrea; Martín-Nares, Eduardo; Guaracha-Basañez, Guillermo Arturo; Torres-Ruiz, Jiram; Wiesik-Szewczyk, Ewa; Nowakowska-Plaza, Anna; Sfriso, Paolo; Bindoli, Sara; Rizzo, Samuele; Hernández-Rodríguez, José; Gómez-Caverzaschi, Verónica; Araújo, Olga; Mayrink Giardini, Henrique A; González-García, Andrés; Lopalco, Giuseppe; Viapiana, Ombretta; Bixio, Riccardo; Tufan, Abdurrahman; Hissaria, Pravin; Beecher, Mark; Callisto, Alicia; De Paulis, Amato; Dagna, Lorenzo; Campochiaro, Corrado; Tomelleri, Alessandro; Bugatti, Serena; Milanesi, Alessandra; Ruiz-Irastorza, Guillermo; Soto-Peleteiro, Adriana; Piga, Matteo; Cauli, Alberto; Conti, Fabrizio; Cardamone, Chiara; Triggianese, Paola; Gurnari, Carmelo; Vitetta, Rosetta; Prete, Marcella; Racanelli, Vito; Talarico, Rosaria; Ferro, Francesco; di Cianni, Federica; Cuccaro, Maria Chiara; Mayo-Juanatey, Adrián; Renieri, Alessandra; Sorrentino, Vincenzo; Ergun, Mehmet Ali; Balistreri, Alberto; Frediani, Bruno; Bocchia, Monica; Fabiani, Claudia; Cantarini, Luca; Vitale, Antonio

Impact of intraprocedural antiplatelet therapy on stent patency and safety after emergent intracranial stenting in acute ischaemic stroke: insights from the RESISTANT registry

术中抗血小板治疗对急性缺血性卒中急诊颅内支架置入术后支架通畅性和安全性的影响:来自 RESISTANT 注册研究的启示

Diana, Francesco; Hassan, Ameer E; Ortega-Gutierrez, Santiago; Miller, Samantha; Rodriguez-Calienes, Aaron; Olive Gadea, Marta; Kaesmacher, Johannes; Mujanovic, Adnan; Geyik, Serdar; Senadim, Songul; Piano, Mariangela; Cervo, Amedeo; Salcuni, Andrea; Moreu, Manuel; López-Frías, Alfonso; Zapata Arriaza, Elena; de Albóniga-Chindurza, Asier; Bergui, Mauro; Molinaro, Stefano; Sousa, João André; Sargento-Freitas, João; Gomes, Fábio; Alexandre, Andrea; Pedicelli, Alessandro; Machi, Paolo; Hofmeister, Jeremy; Scarcia, Luca; Kalsoum, Erwah; Amorim, Jose; Meira, Torcato; Renieri, Leonardo; Capasso, Francesco; Romano, Daniele G; Barcena, Eduardo; Seoane, David; Abdalkader, Mohamad; Klein, Piers; Nguyen, Thanh N; Perry, Catarina; Fragata, Isabel; Yavagal, Dileep R; Charles, Jude H; Rodríguez, José; Vega, Pedro; Özdemir, Atilla Ö; Uysal, Zehra; Smajda, Stanislas; Al Salman, Sadiq; Khalife, Jane; Jovin, Tudor; Biraschi, Francesco; Ricchetti, Francesca; Castro, Pedro; Albuquerque, Luis; Siddiqui, Adnan H; Jaikumar, Vinay; Navia, Pedro; Ntoulias, Nikolaos; Psychogios, Marios; Velo, Mariano; Zamarro, Joaquín; de Paco, Gonzalo; Ashouri, Yazan; AlMajali, Mohammad; Arenillas, Juan F; Sierra, Alicia; Romoli, Michele; Marto, João Pedro; Yaghi, Shadi; Peschillo, Simone; Ribo, Marc; Tomasello, Alejandro; Requena, Manuel

Intracranial Stenting During Acute Endovascular Therapy of Stroke: Clinical and Radiological Outcomes of the RESISTANT International Registry

急性卒中血管内治疗期间的颅内支架置入术:RESISTANT国际注册研究的临床和放射学结果

Requena, Manuel; Olivé-Gadea, Marta; Diana, Francesco; Kaesmacher, Johannes; Mujanovic, Adnan; Geyik, Serdar; Senadim, Songul; Cervo, Amedeo; Salcuni, Andrea; Piano, Mariangela; Moreu, Manuel; López-Frías, Alfonso; Hassan, Ameer E; Miller, Samantha; Zapata-Arriaza, Elena; de Albóniga-Chindurza, Asier; Bergui, Mauro; Molinaro, Stefano; Sousa, João A; Gomes, Fábio; Sargento, João; Alexandre, Andrea; Pedicelli, Alessandro; Hofmeister, Jeremy; Machi, Paolo; Scarcia, Luca; Kalsoum, Erwah; Amorim, Jose; Meira, Torcato; Ortega-Gutierrez, Santiago; Rodriguez-Calienes, Aaron; Renieri, Leonardo; Capasso, Francesco; Romano, Daniele G; Barcena, Eduardo; Seoane, David; Abdalkader, Mohamad; Klein, Piers; Nguyen, Thanh N; Perry, Catarina; Fragata, Isabel; Yavagal, Dileep R; Charles, Jude H; Rodríguez, José; Vega, Pedro; Özdemir, Atilla Ö; Uysal, Zehra; Smajda, Stanislas; Al Salman, Sadiq; Khalife, Jane; Jovin, Tudor; Biraschi, Francesco; Ricchetti, Francesca; Castro, Pedro; Albuquerque, Luis; Siddiqui, Adnan H; Jaikumar, Vinay; Navia, Pedro; Ntoulias, Nikolaos; Psychogios, Marios; Velo, Mariano; Zamarro, Joaquín; de Paco, Gonzalo; Ashouri, Yazan; AlMajali, Mohammad; Arenillas, Juan F; Sierra, Alicia; Romoli, Michele; Marto, João Pedro; Yaghi, Shadi; Ribo, Marc; Tomasello, Alejandro

Single-layer spherical (SLS) vs single-layer (SL) Woven EndoBridge (WEB) device in the treatment of narrow-neck intracranial aneurysms: a propensity score-matched analysis

单层球形(SLS)与单层(SL)编织式EndoBridge(WEB)装置治疗窄颈颅内动脉瘤的比较:倾向评分匹配分析

Salim, Hamza Adel; Yedavalli, Vivek; Milhem, Fathi; Adeeb, Nimer; Musmar, Basel; Essibayi, Muhammed Amir; Daraghma, Motaz; Dibas, Mahmoud; Cancelliere, Nicole M; Diestro, Jose Danilo Bengzon; Algin, Oktay; Ghozy, Sherief; Lay, Sovann V; Guenego, Adrien; Renieri, Leonardo; Carnevale, Joseph; Saliou, Guillaume; Mastorakos, Panagiotis; Naamani, Kareem El; Shotar, Eimad; Möhlenbruch, Markus; Kral, Michael; Chung, Charlotte; Salem, Mohamed M; Lylyk, Ivan; Foreman, Paul M; Shaikh, Hamza; Župančić, Vedran; Hafeez, Muhammad U; Catapano, Joshua; Waqas, Muhammad; Arslan, Muhammet; Ergun, Onur; Rabinov, James D; Maingard, Julian; Schirmer, Clemens M; Piano, Mariangela; Kühn, Anna L; Michelozzi, Caterina; Starke, Robert M; Hassan, Ameer; Ogilvie, Mark; Nguyen, Anh; Jones, Jesse; Brinjikji, Waleed; Nawka, Marie T; Psychogios, Marios; Ulfert, Christian; Pukenas, Bryan; Burkhardt, Jan-Karl; Huynh, Thien; Martinez-Gutierrez, Juan Carlos; Sheth, Sunil A; Slawski, Diana; Tawk, Rabih; Pulli, Benjamin; Lubicz, Boris; Panni, Pietro; Puri, Ajit S; Pero, Guglielmo; Raz, Eytan; Griessenauer, Christoph J; Asadi, Hamed; Siddiqui, Adnan; Levy, Elad I; Haranhalli, Neil; Altschul, David; Ducruet, Andrew F; Albuquerque, Felipe C; Regenhardt, Robert W; Stapleton, Christopher J; Kan, Peter; Kalousek, Vladimir; Lylyk, Pedro; Boddu, Srikanth; Knopman, Jared; Tjoumakaris, Stavropoula I; Cuellar-Saenz, Hugo H; Jabbour, Pascal M; Clarençon, Frédéric; Limbucci, Nicola; Pereira, Vitor Mendes; Patel, Aman B; Wintermark, Max; Dmytriw, Adam A

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

Limited overlap between genetic effects on disease susceptibility and disease survival

遗传因素对疾病易感性和疾病存活率的影响重叠有限

Yang, Zhiyu; Pajuste, Fanny-Dhelia; Zguro, Kristina; Cheng, Yipeng; Kurant, Danielle E; Eoli, Andrea; Wanner, Julian; Jermy, Bradley; Rämö, Joel; Kanoni, Stavroula; van Heel, David A; Hayward, Caroline; Marioni, Riccardo E; McCartney, Daniel L; Renieri, Alessandra; Furini, Simone; Mägi, Reedik; Gusev, Alexander; Drineas, Petros; Paschou, Peristera; Heyne, Henrike; Ripatti, Samuli; Mars, Nina; Ganna, Andrea

Genome-wide association study of long COVID

针对新冠长期症状的全基因组关联研究

Lammi, Vilma; Nakanishi, Tomoko; Jones, Samuel E; Andrews, Shea J; Karjalainen, Juha; Cortés, Beatriz; O'Brien, Heath E; Ochoa-Guzman, Ana; Fulton-Howard, Brian E; Broberg, Martin; Haapaniemi, Hele H; Kanai, Masahiro; Pirinen, Matti; Schmidt, Axel; Mitchell, Ruth E; Mousas, Abdou; Mangino, Massimo; Huerta-Chagoya, Alicia; Sinnott-Armstrong, Nasa; Cirulli, Elizabeth T; Vaudel, Marc; Kwong, Alex S F; Maiti, Amit K; Marttila, Minttu M; Posner, Daniel C; Rodriguez, Alexis A; Batini, Chiara; Minnai, Francesca; Dearman, Anna R; Warmerdam, C A Robert; Sequeros, Celia B; Winkler, Thomas W; Jordan, Daniel M; Rešcenko, Raimonds; Miano, Lorenzo; Lane, Jacqueline M; Chung, Ryan K; Guillen-Guio, Beatriz; Leavy, Olivia C; Carvajal-Silva, Laura; Aguilar-Valdés, Kevin; Frangione, Erika; Guare, Lindsay; Vergasova, Ekaterina; Marouli, Eirini; Striano, Pasquale; Zainulabid, Ummu Afeera; Kumar, Ashutosh; Ahmad, Hajar Fauzan; Edahiro, Ryuya; Azekawa, Shuhei; Luoh, Shiuh-Wen; Erikstrup, Christian; Pedersen, Ole B V; Lerner-Ellis, Jordan; Colombo, Alicia; Grzymski, Joseph J; Ishii, Makoto; Okada, Yukinori; Beckmann, Noam D; Kumari, Meena; Wagner, Ralf; Heid, Iris M; John, Catherine; Short, Patrick J; Magnus, Per; Ansone, Laura; Valenti, Luca V C; Lee, Sulggi A; Wain, Louise V; Verdugo, Ricardo A; Banasik, Karina; Geller, Frank; Franke, Lude H; Rakitko, Alexander; Duncan, Emma L; Renieri, Alessandra; Tsilidis, Konstantinos K; de Cid, Rafael; Niavarani, Ahmadreza; Abner, Erik; Tusié-Luna, Teresa; Verma, Shefali S; Smith, George Davey; Timpson, Nicholas J; Madduri, Ravi K; Cho, Kelly; Daly, Mark J; Ganna, Andrea; Schulte, Eva C; Richards, J Brent; Ludwig, Kerstin U; Marks-Hultström, Michael; Zeberg, Hugo; Ollila, Hanna M

Efficacy and safety of mechanical thrombectomy in distal medium middle cerebral artery occlusion ischemic stroke patients on low-dose aspirin

低剂量阿司匹林治疗远端中段大脑中动脉闭塞性缺血性卒中患者机械取栓术的疗效和安全性

Salim, Hamza Adel; Yedavalli, Vivek; Milhem, Fathi; Musmar, Basel; Adeeb, Nimer; Daraghma, Motaz; El Naamani, Kareem; Henninger, Nils; Sundararajan, Sri Hari; Kühn, Anna Luisa; Khalife, Jane; Ghozy, Sherief; Scarcia, Luca; Tan, Benjamin Yq; Regenhardt, Robert W; Heit, Jeremy J; Cancelliere, Nicole M; Bernstock, Joshua D; Rouchaud, Aymeric; Fiehler, Jens; Sheth, Sunil; Puri, Ajit S; Dyzmann, Christian; Colasurdo, Marco; Renieri, Leonardo; Filipe, João Pedro; Harker, Pablo; Radu, Răzvan Alexandru; Abdalkader, Mohamad; Klein, Piers; Marotta, Thomas R; Spears, Julian; Ota, Takahiro; Mowla, Ashkan; Jabbour, Pascal; Biswas, Arundhati; Clarençon, Frédéric; Siegler, James E; Nguyen, Thanh N; Varela, Ricardo; Baker, Amanda; Essibayi, Muhammed Amir; Altschul, David; Gonzalez, Nestor R; Möhlenbruch, Markus A; Costalat, Vincent; Gory, Benjamin; Stracke, Christian Paul; Hecker, Constantin; Shaikh, Hamza; Griessenauer, Christoph J; Liebeskind, David S; Pedicelli, Alessandro; Alexandre, Andrea M; Tancredi, Illario; Faizy, Tobias D; Kalsoum, Erwah; Wintermark, Max; Lubicz, Boris; Patel, Aman B; Pereira, Vitor Mendes; Guenego, Adrien; Dmytriw, Adam A