日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Interleukin 6 Inhibition With Vamikibart for Uveitic Macular Edema: The Phase 1 DOVETAIL Nonrandomized Clinical Trial

使用Vamikibart抑制白细胞介素6治疗葡萄膜炎性黄斑水肿:DOVETAIL 1期非随机临床试验

Sharma, Sumit; Lin, Phoebe; Hu, Allen; Suhler, Eric B; Pauly-Evers, Meike; Holmes, William; Barekati, Zeinab; Willen, Daniela; Macgregor, Lachlan; Steeples, Laura; Haskova, Zdenka; Feenstra, Derrick; Silverman, David; Passemard, Benedicte; Fauser, Sascha; Mesquida, Marina

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects

GORASP1 中的双等位基因变异导致一种新的高尔基体病,伴有糖基化和有丝分裂缺陷

Sophie Lebon, Arnaud Bruneel, Séverine Drunat, Alexandra Albert, Zsolt Csaba, Monique Elmaleh, Alexandra Ntorkou, Yann Ténier, François Fenaille, Pierre Gressens, Sandrine Passemard, Odile Boespflug-Tanguy, Imen Dorboz, Vincent El Ghouzzi

A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects

GORASP1基因的双等位基因变异会导致一种新型高尔基体病,该病伴有糖基化和有丝分裂缺陷。

Sophie Lebon,Arnaud Bruneel,Séverine Drunat,Alexandra Albert,Zsolt Csaba,Monique Elmaleh,Alexandra Ntorkou,Yann Ténier,François Fenaille,Pierre Gressens,Sandrine Passemard,Odile Boespflug-Tanguy,Imen Dorboz,Vincent El Ghouzzi

Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

作者更正:CBP-HSF2 在 Rubinstein-Taybi 神经发育障碍中的结构和功能相互作用

de Thonel, Aurélie; Ahlskog, Johanna K; Daupin, Kevin; Dubreuil, Véronique; Berthelet, Jérémy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluís Cordón; Leray, Isabelle; Aalto, Anna L; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carène; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C; Miozzo, Federico; Fergelot, Patricia; Lebigot, Élise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Sabéran-Djoneidi, Délara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valérie

Novel trehalose-based excipients for stabilizing nebulized anti-SARS-CoV-2 antibody.

用于稳定雾化抗SARS-CoV-2抗体的新型海藻糖基赋形剂

Noverraz François, Robin Baptiste, Passemard Solène, Fauvel Bénédicte, Presumey Jessy, Rigal Emilie, Cookson Alan, Chopineau Joël, Martineau Pierre, Villalba Martin, Jorgensen Christian, Aubert-Pouëssel Anne, Morille Marie, Gerber-Lemaire Sandrine

Hierarchical Quatsome-RGD Nanoarchitectonic Surfaces for Enhanced Integrin-Mediated Cell Adhesion

分层四聚体-RGD纳米结构表面增强整合素介导的细胞粘附

Marc Martínez-Miguel, Miquel Castellote-Borrell, Mariana Köber, Adriana R Kyvik, Judit Tomsen-Melero, Guillem Vargas-Nadal, Jose Muñoz, Daniel Pulido, Edgar Cristóbal-Lecina, Solène Passemard, Miriam Royo, Marta Mas-Torrent, Jaume Veciana, Marina I Giannotti, Judith Guasch, Nora Ventosa, Imma Ratera

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

勘误:作者更正:用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

STIL balancing primary microcephaly and cancer

STIL 仍在平衡原发性小头畸形和癌症

Patwardhan, Dhruti; Mani, Shyamala; Passemard, Sandrine; Gressens, Pierre; El Ghouzzi, Vincent

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

更正:寨卡病毒在人类神经祖细胞中引发的 P53 激活和基因毒性应激与严重遗传性小头畸形相关的突变类似

El Ghouzzi, Vincent; Bianchi, Federico T; Molineris, Ivan; Mounce, Bryan C; Berto, Gaia E; Rak, Malgorzata; Lebon, Sophie; Aubry, Laetitia; Tocco, Chiara; Gai, Marta; Chiotto, Alessandra M A; Sgrò, Francesco; Pallavicini, Gianmarco; Simon-Loriere, Etienne; Passemard, Sandrine; Vignuzzi, Marco; Gressens, Pierre; Di Cunto, Ferdinando