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

Does stringent cytoreduction improve survival in advanced proliferative chronic myelomonocytic leukemia?

严格的细胞减灭术能否提高晚期增殖性慢性粒单核细胞白血病患者的生存率?

Selimoglu-Buet, Dorothée; Chevret, Sylvie; Santini, Valeria; Thépot, Sylvain; Morabito, Margot; Adès, Lionel; Laplane, Lucie; Giagounidis, Aristoteles; Droin, Nathalie; Lübbert, Michael; Sapena, Rosa; Nimubona, Stanislas; Torregrosa-Diaz, Jose Miguel; Germing, Ulrich; Pelizzari, Anna Maria; Park, Sophie; Jaekel, Nadja; Metzgeroth, Georgia; Onida, Francesco; Paul, Franciane; Patriarca, Andrea; Stamatoullas, Aspasia; Götze, Katharina; Chermat, Fatiha; Platzbecker, Uwe; Fenaux, Pierre; Solary, Eric; Itzykson, Raphael

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Improving ulcerative colitis prospects through fecal microbiota transfer: atypical donor microbiota can boost success rate

通过粪便微生物群移植改善溃疡性结肠炎的预后:非典型供体微生物群可提高成功率

van de Guchte, Maarten; Mondot, Stanislas; Cadiou, Julie; Raghuvanshi, Ruma; Rous, Colombe; Doré, Joël

Intermittent antibiotic exposure of Escherichia coli biofilms drives resistance in catheter-associated infection models

间歇性抗生素暴露可导致大肠杆菌生物膜在导管相关感染模型中产生耐药性。

Yoshii, Yutaka; Thiriet-Rupert, Stanislas; Lebeaux, David; Ghigo, Jean-Marc; Beloin, Christophe

Non-invasive temporal interference stimulation of the hippocampus suppresses epileptic biomarkers in patients with Epilepsy: biophysical differences between kilohertz and amplitude modulated stimulation

非侵入性海马时间干扰刺激可抑制癫痫患者的癫痫生物标志物:千赫兹刺激与幅度调制刺激的生物物理差异

Missey, Florian; Acerbo, Emma; Dickey, Adam S; Trajlinek, Jan; Studnička, Ondřej; Lubrano, Claudia; de Araújo E Silva, Mariane; Brady, Evan; Všianský, Vit; Szabo, Johanna; Dolezalova, Irena; Fabo, Daniel; Pail, Martin; Gutekunst, Claire-Anne; Migliore, Rosanna; Migliore, Michele; Lagarde, Stanislas; Carron, Romain; Karimi, Fariba; Astorga, Raul Castillo; Cassara, Antonino M; Kuster, Niels; Neufeld, Esra; Bartolomei, Fabrice; Pedersen, Nigel P; Gross, Robert E; Jirsa, Viktor; Drane, Daniel L; Brázdil, Milan; Williamson, Adam

Individual Brain Charting: fifth release of high-resolution fMRI data for cognitive mapping

个体脑图谱绘制:第五次发布用于认知映射的高分辨率功能磁共振成像数据

Ponce, Ana Fernanda; Aggarwal, Himanshu; Shankar, Swetha; Torre, Juan Jesús; Pinho, Ana Luísa; Thual, Alexis; Ginisty, Chantal; Lecomte, Yann; Berland, Valérie; Beriot, Lucile; Laurier, Laurence; Joly-Testault, Véronique; Médiouni-Cloarec, Gaëlle; Hertz-Pannier, Lucie; Doublé, Christine; Martins, Bernadette; Amalric, Marie; Dehaene, Stanislas; Diersch, Nadine; Wolbers, Thomas; Shafto, Meredith A; O'Doherty, John P; Man, Vincent; Dolan, Raymond J; Poldrack, Russell A; Stigliani, Anthony; Grill-Spector, Kalanit; Douglas, Danielle; Lee, Andy C H; Keator, David B; Potkin, Steven G; Chang, Dorita H F; Troje, Nikolaus F; Kuo, Bo-Cheng; Astle, Duncan E; Thirion, Bertrand

Extracellular vesicle microRNAs are biomarkers of focal epilepsy but not epilepsy-related respiratory dysfunction

细胞外囊泡微RNA是局灶性癫痫的生物标志物,但并非癫痫相关呼吸功能障碍的生物标志物。

Rheims, Sylvain; Kouchi, Hayet; Busato, Florence; Lagarde, Stanislas; Derbala, David; Boulogne, Sébastien; Leclercq, Mathilde; Chenais, Jessica; Bouvard, Sandrine; Bartolomei, Fabrice; Bezin, Laurent; Tost, Jorg

Scalp-negative medial temporal interictal epileptic discharges alter large-scale brain networks: A simultaneous high-density electroencephalographic and intracranial electroencephalographic study

头皮阴性内侧颞叶间期癫痫放电会改变大规模脑网络:一项同步高密度脑电图和颅内脑电图研究

Roehri, Nicolas; De Stefano, Pia; Spinelli, Laurent; Marquis, Renaud; Lagarde, Stanislas; Momjian, Shahan; Seeck, Margitta; Vulliemoz, Serge

Outcomes in Children and Adults With Antiglomerular Basement Membrane Disease

抗肾小球基底膜病患儿及成人的预后

Suhlrie, Adriana; van der Meijden, Wilbert A G; Faguer, Stanislas; Alberici, Federico; Idrizi, Anisa; Audard, Vincent; Servais, Aude; Boyer, Olivia; Dossier, Claire; Radermacher, Jörg; Skalioti, Chrysanthi; Zieg, Jakub; Aksenova, Marina; Raes, Ann; Renson, Thomas; Mastrangelo, Antonio; Dorresteijn, Eiske; Terzi, Alexandra; Bouts, Antonia; Teixeira, Ana Fernandes; Herrero-Goñi, Maria; Haffner, Dieter; Kanzelmeyer, Nele