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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

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

Intravenous Thrombolysis Use in the Late Time Window Before Interhospital Transfer for Thrombectomy

在院间转运进行血栓切除术前的晚期时间窗内使用静脉溶栓治疗

Seners, Pierre; Nehme, Nour; Ter Schiphorst, Adrien; Charbonneau, Frédérique; Chausson, Nicolas; Belley, Marie; Wacongne, Anne; Kaaouana, Olfa; Henry, Carole; Girbovan, Andrei; Bennani, Omar Naciri; Maïer, Benjamin; Dupin, Mathilde; Gerschenfeld, Gaspard; Lun, François; Marc, Guillaume; Dassa, Jérémie; Benoit, Tristan; Sablot, Denis; Loeillot, Julia; Rigal, Julien; Smadja, Didier; Scarcia, Luca; Caroff, Jildaz; Pico, Fernando; Henon, Hilde; Skerlak, Stéphane; Basille, Florian; Ben Hassen, Wagih; Marnat, Gaultier; Allard, Julien; Legris, Loïc; Bourcier, Romain; Forestier, Géraud; Chivot, Cyril; Albers, Gregory W; Lansberg, Maarten G; Turc, Guillaume; Papassin, Jérémie

Nivolumab in combination with ipilimumab versus capecitabine as post-operative treatment for triple negative breast cancer patients with residual disease after neoadjuvant chemotherapy: a multicentre, randomized, open-label phase II trial - BREASTIMMUNE-03

纳武利尤单抗联合伊匹木单抗对比卡培他滨作为新辅助化疗后残留病灶的三阴性乳腺癌患者术后治疗:一项多中心、随机、开放标签的II期试验 - BREASTIMMUNE-03

Trédan, Olivier; Loirat, Delphine; Chabaud, Sylvie; Toussaint, Philippe; Petit, Thierry; Viret, Frédéric; Levy, Christelle; Robert, Aurélien; Grenier, Julien; Mansi, Laura; Spano, Jean-Philippe; Patsouris, Anne; Derbel, Olfa; Jouannaud, Christelle; Ferrero, Jean Marc; Frenel, Jean Sébastien; Molin, Yann; Doublet, Louis; Heudel, Pierre-Etienne; Pierga, Jean-Yves; Garin, Gwenaële; Pérol, David; Bachelot, Thomas

Experts' recommendations for the management of adult patients with cardiogenic shock

专家对成人心源性休克患者管理的建议

Aissaoui, Nadia; Delmas, Clement; Merdji, Hamid; Schurtz, Guillaume; Baudry, Guillaume; Beurton, Antoine; Boissier, Florence; Bonello, Laurent; Cholley, Bernard; Combaret, Nicolas; Combes, Alain; David, Charles-Henri; De Backer, Daniel; Guinot, Pierre Grégoire; Hamzaoui, Olfa; Harbaoui, Brahim; Imbault, Julien; Nesseler, Nicolas; Kimmoun, Antoine; Kindo, Michel; Lebreton, Guillaume; Leurent, Guillaume; Levy, Bruno; Manzo-Silberman, Stéphane; Martin, Anne-Céline; Mekontso-Dessap, Armand; Adda, Imane; Mootien, Joy; Ouattara, Alexandre; Pozzi, Matteo; Puymirat, Etienne; Roubille, Francois; Trimaille, Antonin; Ughetto, Aurore; Van Belle, Eric; Bonnefoy, Eric; Kuteifan, Khaldoun

Synergistic Anticancer Activity of Annona muricata Leaf Extract and Cisplatin in 4T1 Triple-Negative Breast Cancer Cells

番荔枝叶提取物与顺铂对4T1三阴性乳腺癌细胞的协同抗癌活性

Kouki, Oumayma; Lasram, Mohamed Montassar; Abidi, Amel; Leprince, Jérôme; Ghzaiel, Imen; Mackrill, John J; Ghrairi, Taoufik; Lizard, Gérard; Masmoudi-Kouki, Olfa

GLP-1 RAs for Treating Metabolic Dysfunction-Associated Steatosis Liver Disease: From GLP-1 Discovery to FDA Approval: A Comprehensive Narrative Review

GLP-1受体激动剂治疗代谢功能障碍相关脂肪肝:从GLP-1的发现到FDA批准:一项全面的叙述性综述

Khalifa, Olfa; Arredouani, Abdelilah

Development and external validation of the LEAN score to predict late seizures after intracerebral haemorrhage

开发和外部验证 LEAN 评分以预测脑出血后迟发性癫痫发作

Reitsma, Frederik J; van Kuijk, Sander M J; Werring, David J; Banerjee, Gargi; Cordonnier, Charlotte; Kaaouana, Olfa; Puy, Laurent; Viswanathan, Anand; van Oostenbrugge, Robert J; Staals, Julie; Rouhl, Rob P W

Understanding the Role of Durum Wheat Thioredoxin h-Type TdTrxh2 in Biotic Stress Tolerance

了解硬粒小麦硫氧还蛋白h型TdTrxh2在生物胁迫耐受性中的作用

Kamoun, Hanen; Keskes, Sahar; Dhouib, Hanen; Tounsi, Sana; Jrad, Olfa; Brini, Faiçal; Feki, Kaouthar

Comparing the genetic and serum expression of LL-37 Antimicrobial Peptide in pemphigus vulgaris and pemphigus foliaceus patients

比较寻常型天疱疮和落叶型天疱疮患者体内LL-37抗菌肽的基因表达和血清表达

Dhaffouli, Fatma; Elloumi, Nesrine; Sellami, Khadija; Bahloul, Emna; Tahri, Safa; Turki, Hamida; Hachicha, Hend; Abida, Olfa