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

Disease-Modifying Treatment Options in Very Early Onset Multiple Sclerosis-What Choices Are There for Onset Under 5 Years of Age? A Systematic Review

早期发病型多发性硬化症的疾病修饰治疗方案——5岁以下发病的患者有哪些选择?一项系统性综述

Craiu, Dana; Dica, Alice Denisa; Pomeran, Cristina; Pescaru, George; Menascu, Shay; Simu, Mihaela

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment

杜氏肌营养不良症中的脑部问题:DMD突变位点及其通过亚型损伤与神经系统合并症的关联

Barbarii, Teodora; Tudorache, Raluca Anca; Craiu, Dana; Neagu, Elena; Brinduse, Lacramioara Aurelia; Burloiu, Carmen Magdalena; Iliescu, Catrinel Mihaela; Budisteanu, Magdalena; Minciu, Ioana; Barca, Diana Gabriela; Sandu, Carmen; Tarta-Arsene, Oana; Pomeran, Cristina; Motoescu, Cristina; Dica, Alice; Anghelescu, Cristina; Surlica, Dana; Toma, Adrian Ioan; Butoianu, Niculina

The Interactions Between Diet and Gut Microbiota in Preventing Gestational Diabetes Mellitus: A Narrative Review

饮食与肠道菌群在预防妊娠期糖尿病中的相互作用:一项叙述性综述

Beldie, Luiza-Andreea; Dica, Cristina-Camelia; Moța, Maria; Pirvu, Bianca-Florentina; Burticală, Marilena-Alexandra; Mitrea, Adina; Clenciu, Diana; Efrem, Ion Cristian; Vladu, Beatrice Elena; Timofticiuc, Diana Cristina Protasiewicz; Roșu, Maria Magdalena; Gheonea, Theodora Claudia; Amzolini, Anca Maria; Moța, Eugen; Vladu, Ionela Mihaela

The burden of cancer in metabolic dysfunction-associated steatotic liver disease

代谢功能障碍相关脂肪肝疾病的癌症负担

Pîrvu, Bianca Florentina; Clenciu, Diana; Beldie, Luiza Andreea; Dica, Cristina Camelia; Burticală, Marilena Alexandra; Ţenea-Cojan, Tiberiu Ştefăniţă; Mitrea, Adina; Amzolini, Anca Maria; Efrem, Ion Cristian; Mogoş, Gabriel Florin Răzvan; Vladu, Ionela Mihaela

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

一例患有杂合子半乳糖血症、唐氏综合征和复杂性心脏畸形的新生儿的内分泌紊乱:病例报告

Rosca, Ioana; Turenschi, Alina; Nicolescu, Alin; Constantin, Andreea Teodora; Canciu, Adina Maria; Dica, Alice Denisa; Bratila, Elvira; Coroleuca, Ciprian Andrei; Nastase, Leonard

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

T3类似物Triac治疗MCT8缺乏症儿童和成人的长期疗效:一项真实世界回顾性队列研究

van Geest, Ferdy S; Groeneweg, Stefan; van den Akker, Erica L T; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A A; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D; Christian, Peter; Coutant, Régis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Monti Lora, Felipe; Moran, Carla; Müller, Katalin E; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B; Seckold, Rowen; Menevşe, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P; Visser, W Edward

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

脑异位症的临床和基因组学发现:来自罗马尼亚的儿科患者队列报告

Budisteanu, Magdalena; Papuc, Sorina Mihaela; Erbescu, Alina; Iliescu, Catrinel; Dobre, Maria; Barca, Diana; Tarta-Arsene, Oana; Motoescu, Cristina; Dica, Alice; Sandu, Carmen; Anghelescu, Cristina; Craiu, Dana; Arghir, Aurora

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

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