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

Value of ultra-high-field MRI in patients with drug-resistant focal epilepsy and negative 3T MRI (EpiUltraStudy): Diagnostic gain of 7T structural analysis

超高场磁共振成像在药物难治性局灶性癫痫且3T磁共振成像结果为阴性的患者中的价值(EpiUltraStudy):7T结构分析的诊断优势

van Lanen, Rick H G J; Uher, Daniel; Hoeberigs, Christianne M C; Hofman, Paul A M; Santegoeds, Remco; Wiggins, Christopher; Tse, Desmond H Y; Steijvers, Esther G M; Jansen, Jacobus F A; Drenthen, Gerald S; Roebroeck, Alard; Ivanov, Dimo; Poser, Benedikt A; van Kuijk, Sander M J; Hoogland, Govert; Rijkers, Kim; Wagner, Louis G L; Widman, Guido; Beckervordersandforth, Jan; Klinkenberg, Sylvia; Rouhl, Rob P W; Delev, Daniel; Clusmann, Hans; Wolking, Stefan; Weber, Yvonne; Dhaenens-Meyer, Laurien K; Schriewer, Elisabeth; Meurs, Alfred; Jansen, Katrien; Theys, Tom; van Paesschen, Wim; van Roost, Dirk; Backes, Walter H; Colon, Albert J; Schijns, Olaf E M G

Seeing elephants and drinking water from a porcelain vase - A case of septin-7 antibody-associated encephalitis presenting as a severe disorganized psychosis

看到大象,用瓷瓶喝水——一例由Septin-7抗体引起的脑炎,表现为严重的紊乱性精神病

Gaebler, Arnim Johannes; Arlt, Friederike A; Scharf, Madeleine; Wolking, Stefan; Weber, Yvonne; Tauber, Simone; Kirchner, Marieluise; Mertins, Philipp; Boy, Christian; Neuner, Irene; Frodl, Thomas; Tebartz van Elst, Ludger; Prüss, Harald; Novakovic, Ana

Advancing Nursing Data Integration Through a Nursing Minimum Dataset for the Conceptual and Technical Development of a "Fall Prevention" Data Module: Development Study

通过护理最小数据集推进护理数据集成,以进行“防跌倒”数据模块的概念和技术开发:开发研究

Milkov, Sarah; Schmidt, Antonia; Burmann, Anja; Tschorn, Niklas; Klötgen, Marcel; Deiters, Wolfgang; Potthoff, Christian; Neveling, Kirsten; Weber, Yvonne; Keuchel, Maren; Holle, Daniela

Headache comorbidity in epilepsy and functional/dissociative seizures: an exploratory cross-sectional study in a tertiary epilepsy center

癫痫和功能性/分离性发作合并头痛:三级癫痫中心的一项探索性横断面研究

Jüchtern, Marvin; Timpte, Katharina; Widman, Guido; Weber, Yvonne; Wolking, Stefan

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy

SeizeIT2:局灶性癫痫患者的可穿戴设备数据集

Bhagubai, Miguel; Chatzichristos, Christos; Swinnen, Lauren; Macea, Jaiver; Zhang, Jingwei; Lagae, Lieven; Jansen, Katrien; Schulze-Bonhage, Andreas; Sales, Francisco; Mahler, Benno; Weber, Yvonne; Van Paesschen, Wim; De Vos, Maarten

Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila

果蝇AP2M1发育和癫痫性脑病的建模

Karge, Robin A; Fischer, Florian P; Schüth, Hannah; Wechner, Aileen; Peter, Sabrina; Kilo, Lukas A; Dichter, Mato; Voigt, Aaron; Tavosanis, Gaia; van Loo, Karen M J; Koch, Henner; Weber, Yvonne G; Wolking, Stefan

Epilepsy, seizures and hyperexcitability-a challenge in neurology

癫痫、癫痫发作和过度兴奋——神经病学面临的挑战

Rosenow, Felix; Berlit, Peter; Weber, Yvonne

Epilepsy in women of childbearing age: a focused review

育龄妇女癫痫:一项重点综述

Heckelmann, Jan; Schmitz, Bettina; Weber, Yvonne G; Mann, Catrin