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

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre

Generation and characterization of human induced pluripotent stem cells from neuropathologically confirmed multiple system atrophy patient-derived fibroblasts.

从经神经病理学证实的多系统萎缩患者来源的成纤维细胞中生成和表征人类诱导多能干细胞。

Alemany-Ribes Mireia, Pérez-Soriano Alexandra, Santos Almudena, Severino Jacqueline, Dangla-Valls AdriÃ, Gigirey-Suárez Martín, Cohen Dory, Ezquerra Mario, Fernandez-Santiago Ruben, Fernandez Manel, Martí Maria J, Baekelandt Veerle, Peelaerts Wouter, Melki Ronald, Compta Yaroslau, Batlle-Morera Laura

Changes in patient-reported quality of life after lobectomy versus sublobar resection

肺叶切除术与亚肺叶切除术后患者自述生活质量的变化

Wang, Danny; Fang, Zhengyu; Zhu, Alexander; Rettner, Bryan; Potter, Alexandra L; McCarthy, Meghan; Zhang, Lizi; Kim, Joshua; Zhang, Yuhang; Powell, Joseph; Pope, Aubrey; Beqari, Jorind; Cranor, James; Smock, Gabriel; Warikoo, Isha Mehta; Aaron, Anna; Guo, Quiana; Hanna, Gina; Mitri, Joseph; Zarif, Michael; Melki, Anton; Wilkins, Isaac; Lin, Mong-Wei; Lee, Hang; Costantino, Christina; Furlow, Paul W; Sachdeva, Uma M; Auchincloss, Hugh G; Wright, Cameron; Lanuti, Michael; Li, Xiao; Jeffrey Yang, Chi-Fu

Pulsed field ablation: The pitfall of remote stunning or the importance of contact and contiguity

脉冲场消融:远程电击的陷阱还是接触和邻近的重要性?

Kottkamp, Hans; Antepara Amador, Carlos Felipe; Melki, Lea; Shenavai, Laura; Schumacher, Burghard

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children

法国儿童期发病的低补体血症性荨麻疹性血管炎:10例儿童的表型和基因型多样性

Bianchi, Chloe; Melki, Isabelle; Sisirak, Vanja; Loizon, Severine; Broly, Martin; Boursier, Guilaine; Tusseau, Maud; Laurent, Audrey; Belot, Alexandre; Eitenschenck, Laurence; Guigonis, Vincent; Jeziorski, Eric; Leguevaques, Damia; Richer, Olivier; Pillet, Pascal; Granel, Jérôme

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

人类TBK1缺乏症:从自身炎症到病毒性脑炎的疾病谱扩大

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos S; Schönrade, Helena; Cüceoğlu, Müşerref Kasap; Özen, Seza; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; Kiykim, Ayça; Sahin, Sezgin; Tahir Turanli, Eda; Akca, Ümmüşen Kaya; van Laar, Jan A M; van Pelt, Philomine A; Hollink, Iris H I M; Pimpale Chavan, Pallavi; Khubchandani, Raju; Aksentijevich, Ivona; Bogunovic, Dusan

The Clinical Significance of Extrapancreatic Incidental Findings Detected During Pancreas Surveillance

胰腺监测过程中意外发现的胰外病变的临床意义

Saba, Helena; Abou Diwan, Elizabeth; Sinan, Hassan; Melki, Dimitri; Dbouk, Mohamad; Blackford, Amanda; Chu, Linda; Shin, Eun Ji; Canto, Marcia Irene; Goggins, Michael

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

Alpha-synuclein seed amplification assays: Data sharing, standardization needed for clinical use

α-突触核蛋白种子扩增检测:临床应用需要数据共享和标准化。

Lashuel, Hilal A; Surmeier, D James; Simuni, Tanya; Merchant, Kalpana; Caughey, Byron; Soto, Claudio; Fares, Mohamed-Bilal; Heym, Roland G; Melki, Ronald

α-synuclein fibrils per se but not α-synuclein seeded aggregation causes mitochondrial dysfunction and cell death in human neurons.

α-突触核蛋白原纤维本身,而不是α-突触核蛋白种子聚集,会导致人类神经元线粒体功能障碍和细胞死亡

Angelova Plamena R, Esteras Noemi, Evans James, Kostic Marko, Melki Ronald, Prehn Jochen H M, Gandhi Sonia, Abramov Andrey Y