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

Trends in paediatric antiseizure-medication use and costs in France, 2014-2023: a nationwide population-based analysis

2014-2023年法国儿童抗癫痫药物使用及费用趋势:一项基于全国人口的分析

Nabbout, Rima; Santilli, Annaëlle; Tyvaert, Louise; Schweitzer, Cyril; Maillard, Louis; Kuchenbuch, Mathieu

A global perspective on transitioning from pediatric to adult care in epilepsy

从全球视角看癫痫治疗从儿科到成人的过渡

Andrade, Danielle M; Jetté, Nathalie; Chandran, Ilakkiah; Patel, Puja; Rubboli, Guido; Cross, J Helen; Craiu, Dana; Tan, Chong Tin; Kija, Edward; Fung, Eva; Granata, Tiziana; Hosny, Hassan; Mula, Marco; Riney, Kate; Shellhaas, Renée A; Siddiqui, Maria; Zulfiqar Ali, Quratulain; Hébert, Julien; Marques, Paula; Kerrigan, Bronte; Ji, Caihong; Valente, Kette; Carrizosa, Jaime; Nabbout, Rima

Breaking Barriers: Advancements in CNS Drug Delivery for Glioblastoma

突破障碍:胶质母细胞瘤中枢神经系统药物递送的进展

Al Fidawi, Nicole; Attieh, Cecile Z; Baghdadi, Lara; El Bekai, Chahine; Sayadi, Safaa; Nabbout, Ghassan; Sahyoun, François; Ghadieh, Hilda E; Azar, Sami; Harb, Frederic

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

癫痫研究优先领域:欧洲罕见和复杂癫痫参考网络 EpiCARE 的立场文件

Tchaicha, Sébile; Auvin, Stéphane; Beniczky, Sándor; Brunklaus, Andreas; Lagae, Lieven; Perucca, Emilio; Surges, Rainer; Adler, Sophie; Helmstaedter, Christoph; Jansen, Floor; Rubboli, Guido; Ryvlin, Philippe; Specchio, Nicola; Trinka, Eugen; Blümcke, Ingmar; de Giorgis, Valentina; Kotulska, Katarzyna; Lesca, Gaetan; Malenica, Masa; McTague, Amy; Nabbout, Rima; Møller, Rikke Steensbjerre; Arrieta, Sandra Silva; Brambilla, Isabella; Kosla, Małgorzata; Braun, Kees; Cross, J Helen; Arzimanoglou, Alexis

Primary angiosarcoma of the seminal vesicle: a detailed case report and literature review of an extremely rare urological malignancy

精囊原发性血管肉瘤:一例极其罕见的泌尿系统恶性肿瘤的详细病例报告及文献综述

Albayeh, Anthony; Fadel, Doha; Nabbout, Ghassan; Ghadieh, Hilda E; Al Ayoubi, Mona

Ischemic Stroke in a Young Adult Male During Finasteride Therapy

非那雄胺治疗期间,一名年轻男性发生缺血性中风

Houmani, Ribal; Houmani, Jad; Hamou, Amira; Aad, Saad; Nabbout, Ghassan

Mobile phone contamination among hospital staff: Focus on MRSA and ESBL-producing bacteria

医院工作人员手机污染:重点关注耐甲氧西林金黄色葡萄球菌(MRSA)和产超广谱β-内酰胺酶(ESBL)细菌

Ghaleb, Rita; Tarhini, Hassan; Sleilaty, Ghassan; Nabbout, Ghassan; El Melky, Etienne

Severe Cord Entanglement in a Monochorionic-Monoamniotic Twin Pregnancy: Highlighting Perinatal Risks and Management Challenges-A Case Report

单绒毛膜单羊膜双胎妊娠中严重的脐带缠绕:围产期风险及处理挑战——病例报告

Alagha, Michel; Saroufine, Karmen; Aji, Hassan; Nabbout, Ghassan

A rare bilateral variant of the levator claviculae: a case report

锁骨提肌罕见双侧变异:病例报告

Al Qassab, Mohamad; Harb, Adham; Chrabieh, Antoine; Kattar, Sahar Al; Nabbout, Ghassan; Hawi, Jihad