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

Effects of Oveporexton, an Orexin Receptor 2-Selective Agonist, on Cognition in Narcolepsy Type 1: A Secondary Analysis of a Randomized Clinical Trial

选择性食欲素受体2激动剂Oveporexton对1型发作性睡病患者认知功能的影响:一项随机临床试验的二次分析

Lammers, Gert Jan; Plazzi, Giuseppe; Mignot, Emmanuel; Pizza, Fabio; Dauvilliers, Yves; Barateau, Lucie; Maruff, Paul; Scammell, Thomas E; Latzman, Robert D; Naylor, Melissa; Olsson, Tina; Stukalin, Ellie; Tanaka, Shinichiro; Volfson, Dmitri; Khachadourian, Vahe; Harel, Brian T

Expert-level probabilistic breathing event detector informs phenotyping of sleep apnea

专家级概率呼吸事件检测器为睡眠呼吸暂停的表型分析提供信息

Kjaer, Magnus Ruud; Hanif, Umaer; Brink-Kjaer, Andreas; Olsen, Mads; Sum-Ping, Oliver; Carrillo, Oscar; Sands, Scott A; Redline, Susan; Stone, Katie L; Jennum, Poul; Mignot, Emmanuel

Brain atrophy patterns in anti-IgLON5 disease

抗IgLON5疾病的脑萎缩模式

Yogeshwar, Selina M; Bartels, Frederik; Grüter, Thomas; Muñiz-Castrillo, Sergio; Picard, Géraldine; Crijnen, Yvette S; Bernard, Emilien; Heidbreder, Anna; Zekeridou, Anastasia; Ringelstein, Marius; Kraft, Andrea; Kovac, Stjepana; Wandinger, Klaus-Peter; de Vries, Juna M; Boon, Agnita J W; Veenbergen, Sharon; Geis, Christian; Penner, Loana; Melzer, Nico; Leypoldt, Frank; Blaabjerg, Morten; Pittock, Sean J; Gaig, Carles; Sabater, Lidia; Santamaria, Joan; Graus, Francesc; Dalmau, Josep; Prüss, Harald; Höftberger, Romana; Schreiner, Bettina; McKeon, Andrew; Lewerenz, Jan; Irani, Sarosh; Mignot, Emmanuel; Titulaer, Maarten J; Ayzenberg, Ilya; Honnorat, Jérôme; Finke, Carsten

Tripartite hydrogen-bonding as a driving force for high-concentration cyclization of poly(l-lactide)

三方氢键作为聚乳酸高浓度环化的驱动力

Moins, Sébastien; Mignot, Alexandre; Henoumont, Céline; Laurent, Sophie; Leclère, Philippe; Coulembier, Olivier

Synthesised database of wild bee and hoverfly records in Europe

欧洲野生蜜蜂和食蚜蝇记录的综合数据库

Sentil, Ahlam; Miličić, Marija; Benrezkallah, Jordan; Ačanski, Jelena; Andrić, Andrijana; Aubert, Matthieu; Bartomeus, Ignasi; Biella, Paolo; Boustani, Mira; Carstensen, Leif Bloss; Bogusch, Petr; Bot, Sander; Brau, Thomas; Budrys, Eduardas; Salazar, Lisette Cantú; Cappellari, Andree; Carion, Frédéric; Castro, Sílvia; Cavaillès, Simon; Cerretti, Pierfilippo; Dathe, Holger H; De Groot, Maarten; De Tandt, Bastien; Devalez, Jelle; Devorsine, Rémi; Díaz-Calafat, Joan; Đorđević, Aleksandra; Dormal, Ambre; Dufrêne, Eric; Dussaix, Cyrille; Fedorova Zaytseva, Liuba A; Fiordaliso, William; Flaminio, Simone; Földesi, Rita; Forgeois, Vianney; Gadoum, Serge; Garrin, Mael; Gaspar, Hugo; Gazzea, Elena; Geppert, Costanza; Gérard, Maxence; Geslin, Benoît; Ghisbain, Guillaume; Gibernau, Marc; Grković, Ana; Heimburg, Helge; Herinckx, Arthur; Demeter, Imre; Janković Milosavljević, Marina; Janssen, Kobe; Kasparek, Max; Kierat, Justyna; Kleijn, David; Kuhlmann, Michael; Lair, Xavier; Lemaire, Shawn; Lenzi, Lucia; Likov, Laura; Litman, Jessica; Lopes, Sara Brito; Loureiro, João; Maarten, Jacobs; Maestracci, Pierre-Yves; Marini, Lorenzo; Maritano, Umberto; Mei, Maurizio; Mignot, Maud; Stojnić, Sonja Mudri; Nedeljković, Zorica; Ockermueller, Esther; Ortiz-Sanchez, F Javier; Patiny, Sébastien; Paukkunen, Juho; Pennards, Gerard; Perrard, Adrien; Petanidou, Theodora; Popov, Grigory; Popov, Snežana; Potts, Simon G; Prokhorov, Alex; Pruner, Stefan; Radchenko, Vladimir; Radenković, Snežana; Rasmont, Pierre; Reverté, Sara; Ricarte, Antonio; Rojo, Santos; Romig, Thomas; Rosa, Paolo; Ruiz, Carlos; Sagot, Philippe; Santerre, Rémi; Scheper, Jeroen; Selis, Marco; Sgolastra, Fabio; Shparyk, Viktor; Siopa, Catarina; Skendžic, Tea; Smit, Jan; Sommaggio, Daniele; Soon, Villu; Ssymank, Axel; Ståhls, Gunilla; Stavrinides, Menelaos; Steffan-Dewenter, Ingolf; Straka, Jakub; Thulier, Joffrey; Tot, Tamara; Tourbez, Clément; van Steenis, Jeroen; van Steenis, Wouter; Varnava, Androulla; Veselić, Sanja; Vesnic, Adi; Vray, Sarah; Williams, Paul; Wood, Thomas James; Zimmermann, Dominique; Żmuda, Aleksandra; Vujić, Ante; Michez, Denis; de Manincor, Natasha

Initial validation of a pediatric cataplexy survey for children and adolescents with narcolepsy type 1

针对患有 1 型嗜睡症的儿童和青少年,对儿科猝倒调查问卷进行初步验证

Maski, Kiran; Mignot, Emmanuel; Wang, Grace Y; Narang, Indra; Worhach, Jennifer; Strunc, Michael; Morse, Anne M; Flygare, Julie; Sideridis, Georgios; Meltzer, Lisa J

When low is not low enough: zero-fluoroscopy atrial fibrillation ablation using the VARIPULSE™ pulsed field system-a prospective single-center study

当低剂量还不够低时:使用 VARIPULSE™ 脉冲场系统进行零透视房颤消融术——一项前瞻性单中心研究

Simeon, E; Roeun, S; Miled, M; Villejoubert, O; Jorrot, P; Mignot, N; Durand, J; Aissani, A; Sebag, F

Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report

一名患有发育障碍和PTPN4基因突变的男孩,在日间护理医院接受强化再教育和丰富环境后,临床症状显著改善:病例报告

Tasu, Corentin; Oppetit, Alice; Galbert, Chantal; Ouaki, Séverine; Zammouri, Ingrid; Gazzano, Odile; Mourao, Jorge; Mignot, Cyril; Cohen, David; Benarous, Xavier

Brain Health from Sleep EEG: A Multicohort, Deep Learning Biomarker for Cognition, Disease, and Mortality

睡眠脑电图与大脑健康:基于多队列深度学习的认知、疾病和死亡率生物标志物

Ganglberger, Wolfgang; Sun, Haoqi; Turley, Niels; Tripathi, Ayush; Hadar, Peter; Gupta, Aditya; Gallagher, Kaileigh; Tesh, Ryan; Kim, Soriul; Nasiri, Samaneh; Leng, Yue; Harrison, Stephanie; Stone, Katie L; Hughes, Timothy; Redline, Susan; Au, Rhoda; Manoach, Dara S; Landolt, Hans-Peter; Huber, Reto; Mignot, Emmanuel; Shin, Chol; Cash, Sydney S; Thomas, Robert J; Westover, M Brandon