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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Revising the ABIDE MCI to dementia prediction model for automated cerebrospinal fluid assays

修订ABIDE MCI至痴呆预测模型,使其适用于自动化脑脊液检测

van der Veere, Pieter J; van Harten, Argonde C; van Maurik, Ingrid S; Teunissen, Charlotte E; Barkhof, Frederik; Vos, Stephanie J B; Froelich, Lutz; Kornhuber, Johannes; Wiltfang, Jens; Maier, Wolfgang; Peters, Oliver; Rüther, Eckart; Frisoni, Giovanni B; Spiru, Luiza; Freund-Levi, Yvonne; Wallin, Åsa K; Hampel, Harald; Tsolaki, Magda; Kłoszewska, Iwona; Mecocci, Patrizia; Vellas, Bruno; Lovestone, Simon; Galluzzi, Samantha; Herukka, Sanna-Kaisa; Santana, Isabel; Baldeiras, I; de Mendonca, Alexandre; Silva, Dina; Chetelat, Gael; Poisnel, Géraldine; Visser, Pieter Jelle; Johnson, Sterling C; Stormrud, Erik; Hansson, Oskar; Palmqvist, Sebastian; Piñol-Ripoll, Gerard; Berkhof, Johannes; van der Flier, Wiesje M

Skin graft bolstered by negative pressure therapy in chronic wounds: A systematic review

负压疗法辅助皮肤移植治疗慢性伤口:系统评价

Gamel, M; Gael, M; Bursztejn, A C

Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge

布鲁加达综合征SCN5A变异携带者钠通道阻滞剂试验阴性的临床特征和预后

Surget, Elodie; Clerici, Gael; Sacher, Frédéric; Martins, Raphael; Maury, Philippe; Denjoy, Isabelle; Thollet, Aurélie; Barc, Julien; Schott, Jean Jacques; Drapier, Nathalie; Redon, Richard; Gourraud, Jean Baptiste; Probst, Vincent

Exploring the impact of Cenozoic climate change on diversification of the Australian endemic Eurepini crickets (Orthoptera: Gryllidae: Eneopterinae)

探索新生代气候变化对澳大利亚特有种 Eurepini 蟋蟀(直翅目:蟋蟀科:Eneopterinae 亚科)多样化的影响

He, Shilin; Kergoat, Gael J; Su, You Ning; Bonillo, Céline; Zwick, Andreas; Warren, Ben H; Robillard, Tony

Retinoic acid regulates fetoplacental vascularization via notch signaling and a SEMA3E/F-PLEXIND1 axis.

视黄酸通过 Notch 信号通路和 SEMA3E/F-PLEXIND1 轴调节胎盘血管化。

Cwiek Aleksandra, Paila Umadevi, Markowska Zaneta, Genet Nafiisha, Jackson Madeline, Genet Gael, Cain Shelby R, Aragon Jordon W, Nelson Elizabeth A, Borges Ricardo Moraes, Sutherland Ann E, Hirschi Karen K

Challenges facing the management of pesticide resistance in weeds, diseases and insect pests in European agriculture and the future of effective IPM implementation

欧洲农业中杂草、病虫害抗药性管理面临的挑战以及有效实施综合虫害管理(IPM)的未来展望

Smith, Julian; Martins, Bianca Assis Barbosa; Beffa, Roland; Field, Linda M; Goertz, Andreas; Le Goupil, Gael; Mehl, Andreas; Langewald, Juergen; Martinelli, Samuel; Rossi, Caio Vitagliano Santi; A Wiles, John

3D Automated Segmentation of Bronchial Abnormalities on Ultrashort Echo Time MRI: A Quantitative MR Outcome in Cystic Fibrosis

超短回波时间磁共振成像中支气管异常的三维自动分割:囊性纤维化定量磁共振成像结果

Bouzid, Amel Imene Hadj; Benlala, Ilyes; de Senneville, Baudouin Denis; Baldacci, Fabien; Macey, Julie; Benhassen, Wadie; Su, Pan; Bui, Stephanie; Zysman, Maeva; Bustin, Aurelien; Berger, Patrick; Dournes, Gael

Development of New Benzo[b]Thiophene-2-Carboxamide Derivatives as Advanced Glycation End-Products Receptor (RAGE) Antagonists

开发新型苯并[b]噻吩-2-甲酰胺衍生物作为晚期糖基化终产物受体(RAGE)拮抗剂

Bonin, Lisa; Hedouin, Matthieu; Furman, Christophe; Not, Ophélie; Lancel, Steve; Bensalah, Mona; Coadou, Gael; Boulanger, Eric; Shova, Sergiu; Oulyadi, Hassan; Ghinet, Alina