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

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis-Associated Uveitis or Chronic Anterior Antinuclear Antibody-Positive Uveitis

巴瑞替尼治疗幼年特发性关节炎相关性葡萄膜炎或慢性前部抗核抗体阳性葡萄膜炎的有效性和安全性

Ramanan, Athimalaipet V; Guly, Catherine M; Simonini, Gabriele; Keller, Stuart Y; Sen, Priyanka; Holzkaemper, Thorsten; Araújo, Joana; Quartier, Pierre

Correction: DYRK1A roles in human neural progenitors

更正:DYRK1A 在人类神经祖细胞中的作用

Courraud, Jeremie; Quartier, Angélique; Drouot, Nathalie; Zapata-Bodalo, Irene; Gilet, Johan; Benchoua, Alexandra; Mandel, Jean-Louis; Piton, Amélie

Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis

卡那单抗治疗高磷血症性家族性肿瘤性钙质沉着症可显著缓解钙质沉着。

Dauchez, Astrid; Herrou, Julia; Mihoubi-Bouvier, Fadila; Quartier, Pierre; Baujat, Geneviève; Koumakis, Eugénie; Briot, Karine; Roux, Christian

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation

计算机模拟指导识别与免疫失调相关的新型JAK1变体

Marie Jeanpierre # ,Orianne Debeaupuis # ,Camille Brunaud ,Judith Yancoski ,Quentin Riller ,Jerome Hadjadj ,Marie-Claude Stolzenberg ,Giselle Villarreal ,Marie Martha Katsicas ,Mariana Villa ,Joao Farela Neves ,Jean-Louis Stephan ,Cédric Léonard ,Estibaliz Lazaro ,Jonathan Ciron ,Charlotte Boussard ,Fabienne Mazerolles ,Aude Magerus ,Pelle Olivier ,Cecile Masson ,Yohann Schmitt ,Benedicte Hoareau ,Angélique Vinit ,Bénédicte Neven ,Pierre Quartier ,Herve Isambert ,Matías Oleastro ,Silvia Danielian ,Marianna Parlato # ,Frederic Rieux-Laucat #

The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort

一项代表JIR队列的研究表明,患有家族性地中海热的女性患者每日所需的秋水仙碱剂量可能更高。

Di Cola, Ilenia; Bartoli, Alessandra; Savey, Léa; Bensalek, Fatima; Delplanque, Marion; Bourguiba, Rim; Aknouche, Zohra; Kone-Paut, Isabelle; Rossi-Semerano, Linda; Melki, Isabelle; Bader-Meunier, Brigitte; Neven, Bénédicte; Quartier, Pierre; Boursier, Guilaine; Cuisset, Laurence; Grateau, Gilles; Hentgen, Véronique; Georgin-Lavialle, Sophie

Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project

目前全球巨噬细胞活化综合征的治疗方法:为METAPHOR项目提供信息的系统性文献综述

Baldo, Francesco; Erkens, Remco G A; Mizuta, Mao; Rogani, Greta; Lucioni, Federica; Bracaglia, Claudia; Foell, Dirk; Gattorno, Marco; Jelusic, Marija; Anton, Jordi; Brogan, Paul; Canna, Scott; Chandrakasan, Shanmuganathan; Cron, Randy Q; De Benedetti, Fabrizio; Grom, Alexei; Heshin-Bekenstein, Merav; Horne, AnnaCarin; Khubchandani, Raju; Ozen, Seza; Quartier, Pierre; Ravelli, Angelo; Shimizu, Masaki; Schulert, Grant; Scott, Christiaan; Sinha, Rashmi; Ruperto, Nicolino; Swart, Joost F; Vastert, Sebastiaan; Minoia, Francesca

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

罕见病转诊中心就诊的儿童和青少年妇科问题:一项观察性回顾性队列研究

Cavadias, Iphigénie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloé; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-Dit-Maire, Pierre; Hadj-Rabia, Smaïl; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valérie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Véronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina

Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)

利用法国国家罕见病登记处进行罕见病患病率估计:以TNF受体相关周期性综合征(TRAPS)为例

Subervie, Adrien; Elhani, Inès; Labouret, Mathilde; Georgin-Lavialle, Sophie; Hachulla, Eric; Belot, Alexandre; Hot, Arnaud; Quartier, Pierre; Aouba, Achille; Desdoits, Alexandra; Saadoun, David; Truchetet, Marie-Elise; Pillet, Pascal; Boursier, Guilaine; Benhamou, Ygal; Grall-Lerosey, Martine; Granel, Brigitte; Fain, Olivier; Queyrel, Viviane; Lescoat, Alain; Melki, Isabelle; Hentgen, Veronique

DYRK1A roles in human neural progenitors.

DYRK1A 在人类神经祖细胞中的作用

Courraud Jeremie, Quartier Angélique, Drouot Nathalie, Zapata-Bodalo Irene, Gilet Johan, Benchoua Alexandra, Mandel Jean-Louis, Piton Amélie