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

Structure-based design of macrocyclic peptides to generate functional antibodies against G protein-coupled receptors

基于结构的环状肽设计用于生成针对G蛋白偶联受体的功能性抗体

Nepveu-Traversy, Marie-Edith; Hassanzadeh, Malihe; Bruneau-Cossette, Laurent; Besserer-Offroy, Élie; Brouillette, Rebecca; Morissette, Sandra; Traboulsi, Hassan; Kirby, Karyn; Murza, Alexandre; Longpré, Jean-Michel; Breton, Billy; Gendron, Fernand-Pierre; Gaudreau, Simon; Boudreault, Pierre-Luc; Sarret, Philippe

Gold-Indium Electrocatalysts for the Selective Oxidation of Glycerol Coupled with CO(2) Reduction

用于甘油选择性氧化与CO₂还原偶联的金铟电催化剂

Molera, Martí; Fernández-Caso, Kevin; Amazian, Mohamed; Díaz-Sainz, Guillermo; Solla-Gullón, José; Álvarez-Guerra, Manuel; Sarret, Maria; Andreu, Teresa

Spotlight on Endocannabinoids in Healthy Individuals Using Volumetric Absorptive Microsampling Combined with LC-MS/MS Analysis

利用体积吸收微量采样结合液相色谱-串联质谱分析法研究健康个体体内内源性大麻素

Haroune, Lounes; Saibi, Sabrina; Bellenger, Jean-Philippe; Vincenot, Matthieu; Léonard, Guillaume; Gendron, Louis; Sarret, Philippe

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

法国多中心队列研究中2563例癫痫患者接受基因诊断的临床和遗传特征

de Sainte Agathe, Jean-Madeleine; Monin, Pauline; Riccardi, Florence; Nava, Caroline; Arnaud, Lionel; Mignot, Cyril; Ville, Dorothée; Auvin, Stéphane; Tardieu, Sandrine; Larcher, Kathy; Gourfinkel-An, Isabelle; Canon, Mathilde; Navarro, Vincent; Héron, Bénédicte; Julia, Sophie; Doummar, Diane; Jacquemont, Marie-Line; Maurey, Hélène; Dozières-Puyravel, Blandine; Perrin, Laurence; Pasquier, Laurent; Dubourg, Christèle; Odent, Sylvie; Bouazzaoui, Abdelhakim; Carre, Wilfrid; Fradin, Mélanie; Demurger, Florence; Chatron, Nicolas; Sanlaville, Damien; Essid, Miriam; Portes, Vincent des; Panagiotakaki, Eleni; Poulat, Anne-Lise; Rivier, Clotilde; Sarret, Catherine; Remerand, Ganaëlle; Altuzarra, Cecilia; Stoeva, Radka; Nguyen, Sylvie; Piard, Juliette; Boucher, Élise; Flurin, Vincent; Guerrot, Anne-Marie; Joriot, Sylvie; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Camus, Caroline Hachon-Le; Villard, Laurent; Faoucher, Marie; Milh, Mathieu; Lesca, Gaëtan; Leguern, Éric

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

ADCY5嵌合变异:不容错过的诊断

Innocenti, Alice; Roze, Emmanuel; Riant, Florence; François-Heude, Marie-Céline; Lecardonnel, Bérénice; Garone, Giacomo; Colmard, Maxime; Chauvet-Piat, Eline; Chaux, Anne-Cécile; Spitz, Marie-Aude; Desnous, Beatrice; Sarret, Catherine; Damier, Philippe; Wirth, Thomas; Anheim, Mathieu; Retailleau, Emilie; Conabady, Estelle; Dubacq, Caroline; Trouillard, Oriane; Méneret, Aurélie; Roubertie, Agathe

Serum S100B Level in the Management of Pediatric Minor Head Trauma: A Randomized Clinical Trial

血清S100B水平在儿童轻微头部外伤治疗中的应用:一项随机临床试验

Bouvier, Damien; Cantais, Aymeric; Laspougeas, Alban; Lorton, Fleur; Plenier, Yannick; Cottier, Maria; Fournier, Philippe; Tran, Antoine; Moreau, Emilie; Durif, Julie; Sarret, Catherine; Mourgues, Charline; Sturtz, Franck; Oudart, Jean-Baptiste; Raffort, Juliette; Gonzalo, Philippe; Cristol, Jean-Paul; Masson, Damien; Pereira, Bruno; Sapin, Vincent

Dopamine-sensitive neurons in the mesencephalic locomotor region control locomotion initiation, stop, and turns

中脑运动区的多巴胺敏感神经元控制运动的启动、停止和转向。

Juárez Tello, Andrea; van der Zouwen, Cornelis Immanuel; Dejas, Léonie; Duque-Yate, Juan; Boutin, Joël; Medina-Ortiz, Katherine; Suresh, Jacinthlyn Sylvia; Swiegers, Jordan; Sarret, Philippe; Ryczko, Dimitri

Design, Synthesis, and In Vitro Characterization of Proteolytically-Stable Opioid-Neurotensin Hybrid Peptidomimetics

蛋白水解稳定的阿片-神经降压素杂合肽模拟物的设计、合成和体外表征

De Neve, Jolien; Breault, Émile; Previti, Santo; Vangeloven, Esaü; Loranger, Bobbi; Chartier, Magali; Brouillette, Rebecca; Lanoie, Annik; Holleran, Brian J; Longpré, Jean-Michel; Gendron, Louis; Tourwé, Dirk; Sarret, Philippe; Ballet, Steven

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

在脊髓性肌萎缩症1型患者中,onasemnogene abeparvovec单药治疗的真实世界多学科疗效:法国队列在治疗前三年的经验

Desguerre, Isabelle; Barrois, Rémi; Audic, Frédérique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; Gomez-Garcia de la Banda, Marta; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Pervillé, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Hervé; Trommsdorff, Valérie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cécilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude