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

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

荷兰遗传代谢疾病转化知识议程的发展

Hieltjes, I J; van der Lee, J H; Groenendijk, M C; van Haaften, G; van Hasselt, P M; Lunsing, R J; van Prooijen, G J J; de Ruiter, E M; van Spronsen, F J; Verhoeven-Duif, N M; de Vreugd, A; Wagenmakers, M; Zweers, H; Dekker, H; Waterham, H R; van Karnebeek, C D; Wanders, R J A; Wevers, R A

Organ Donor Potential After Extracorporeal Cardiopulmonary Resuscitation for Out-of-Hospital Cardiac Arrest: A Post-Hoc Analysis of a Randomized Controlled Trial

院外心脏骤停患者体外心肺复苏后的器官捐献潜力:一项随机对照试验的事后分析

Verberght, Hanne C R; Delnoij, Thijs S R; Suverein, Martje M; Lunsing, Jody; Hermanides, Renicus C; Otterspoor, Luuk; Elzo Kraemer, Carlos V; Vlaar, Alexander P J; van der Heijden, Joris J; Scholten, Erik; Uil, Corstiaan A den; Miranda, Dinis Dos Reis; Akin, Sakir; Metz, Jesse de; van der Horst, Iwan C C; Mathot, Bas J; de Jonge, Jeroen; Nijboer, Mijntje W N; de Meijer, Vincent E; Sanders, Jan S F; Christiaans, Maarten H L; van Zuilen, Arjan D; Hagenaars, Hanneke; Wind, Jentina; Danhof, Miranda; Olde Damink, Steven W M; Winkens, Bjorn; Maessen, Jos G; Lorusso, Roberto; van de Poll, Marcel C G

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

赖氨酸减少疗法与吡哆醇依赖性癫痫患者认知结果之间的关联

Coughlin, Curtis R; Tseng, Laura A; Bok, Levinus A; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M; Lunsing, Roelineke J; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L K; Abdenur, Jose E; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C H; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N; Lamb, Molly M; Wijburg, Frits A; Gospe, Sidney M Jr; van Karnebeek, Clara

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

RABGAP1 的双等位基因功能丧失变异导致了一种新的神经发育综合征

Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E Yuki, Michael D Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W T Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall, 

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

先天性代谢缺陷患者的眼动障碍:37例患者的定量分析

Koens, Lisette H; Tuitert, Inge; Blokzijl, Hans; Engelen, Marc; Klouwer, Femke C C; Lange, Fiete; Leen, Wilhelmina G; Lunsing, Roelineke J; Koelman, Johannes H T M; Verrips, Aad; de Koning, Tom J; Tijssen, Marina A J

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

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

儿童早期共济失调、发育性协调障碍和中枢性肌张力低下中的运动表型

Lawerman, Tjitske F; Brandsma, Rick; Maurits, Natalia M; Martinez-Manzanera, Octavio; Verschuuren-Bemelmans, Corien C; Lunsing, Roelineke J; Brouwer, Oebo F; Kremer, Hubertus Ph; Sival, Deborah A

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

三碘甲状腺素类似物 Triac 治疗 MCT8 缺乏症儿童和成人的有效性和安全性:一项国际性、单臂、开放标签的 II 期试验

Groeneweg, Stefan; Peeters, Robin P; Moran, Carla; Stoupa, Athanasia; Auriol, Françoise; Tonduti, Davide; Dica, Alice; Paone, Laura; Rozenkova, Klara; Malikova, Jana; van der Walt, Adri; de Coo, Irenaeus F M; McGowan, Anne; Lyons, Greta; Aarsen, Femke K; Barca, Diana; van Beynum, Ingrid M; van der Knoop, Marieke M; Jansen, Jurgen; Manshande, Martien; Lunsing, Roelineke J; Nowak, Stan; den Uil, Corstiaan A; Zillikens, M Carola; Visser, Frank E; Vrijmoeth, Paul; de Wit, Marie Claire Y; Wolf, Nicole I; Zandstra, Angelique; Ambegaonkar, Gautam; Singh, Yogen; de Rijke, Yolanda B; Medici, Marco; Bertini, Enrico S; Depoorter, Sylvia; Lebl, Jan; Cappa, Marco; De Meirleir, Linda; Krude, Heiko; Craiu, Dana; Zibordi, Federica; Oliver Petit, Isabelle; Polak, Michel; Chatterjee, Krishna; Visser, Theo J; Visser, W Edward

The neurological phenotype of developmental motor patterns during early childhood

幼儿期发育运动模式的神经表型

Kuiper, Marieke J; Brandsma, Rick; Lunsing, Roelineke J; Eggink, Hendriekje; Ter Horst, Hendrik J; Bos, Arend F; Sival, Deborah A