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

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

MCT8 Deficiency in Females

女性MCT8缺乏症

Groeneweg, Stefan; van Geest, Ferdy S; van der Most, Floor; Abela, Lucia; Alfieri, Paolo; Bauer, Andrew J; Bertini, Enrico; Cappa, Marco; Çelik, Nurullah; de Coo, Irenaeus F M; Dolcetta-Capuzzo, Anna; Dubinski, Ilja; Granadillo, Jorge L; Hoefsloot, Lies H; Kalscheuer, Vera M; van der Knoop, Marieke M; Krude, Heiko; McNerney, Kyle P; Paone, Laura; Peeters, Robin P; Peters, Catherine; Schuelke, Markus; Schweizer, Ulrich; Sprague, Jennifer E; van Trotsenburg, A S Paul; Wilpert, Nina-Maria; Zanni, Ginevra; van Zutven, Laura J C M; Visser, W Edward

A Stable Micellar Formulation of RAD001 for Intracerebroventricular Delivery and the Treatment of Alzheimer's Disease and Other Neurological Disorders

RAD001 的稳定胶束制剂可用于脑室内给药以及治疗阿尔茨海默病和其他神经系统疾病

Laura Gianessi, Alessandro Magini, Roberto Dominici, Stefano Giovagnoli, Diego Dolcetta

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

MCT8 缺乏症的疾病特征:一项国际性、回顾性、多中心队列研究

Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward

Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individuals

通过对三名年轻人的参与式观察,描述莱施-尼汉神经行为障碍及其治疗方法

Bozano, Anna; Schiaffino, Alessandra; Spessa, Alessandra; Valeriani, Francesca; Mancinelli, Raimondo; Micheli, Vanna; Dolcetta, Diego

Vasostatin-1: A novel circulating biomarker for ileal and pancreatic neuroendocrine neoplasms

血管抑素-1:一种用于诊断回肠和胰腺神经内分泌肿瘤的新型循环生物标志物

Corsello, Andrea; Di Filippo, Luigi; Massironi, Sara; Sileo, Federica; Dolcetta Capuzzo, Anna; Gemma, Marco; Carlucci, Claudia; Cusini, Claudio; Colombo, Barbara; Dallatomasina, Alice; Franchi, Giulia Maria; Corti, Angelo; Manzoni, Marco Federico

Severe hypothyroidism causing pre-eclampsia-like syndrome

严重甲状腺功能减退症引起类似先兆子痫的综合征

Inversetti, Annalisa; Serafini, Audrey; Manzoni, Marco F; Dolcetta Capuzzo, Anna; Valsecchi, Luca; Candiani, Massimo

Robust in vivo gene transfer into adult mammalian neural stem cells by lentiviral vectors

利用慢病毒载体将基因高效地转移到成年哺乳动物神经干细胞中

Consiglio, Antonella; Gritti, Angela; Dolcetta, Diego; Follenzi, Antonia; Bordignon, Claudio; Gage, Fred H; Vescovi, Angelo Luigi; Naldini, Luigi