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

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

对一个家族三人组中 POLR3A 变异的研究提示了突变特异性致病机制:来自整合组学方法的启示

Rey, Federica; Casamassa, Alessia; Di Cristofano, Samuele; Esposito, Letizia; Soriano, Amata Amy; Messa, Letizia; Berardo, Clarissa; Hazrati, Mahsa; Ferrone, Ilaria; Bonnet, Maxime; Bruschi, Fabio; Vaia, Ylenia; Marano, Massimo; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Zuccotti, Gianvincenzo; Vescovi, Angelo Luigi; Raimondo, Domenico; Rosati, Jessica; Carelli, Stephana; Cereda, Cristina

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research

脑部磁共振成像在脑性肾上腺脑白质营养不良中的应用:筛查、监测和研究的国际建议

Yska, Hemmo A F; Golse, Marianne; Galanaud, Damien; Amartino, Hernan M; Bergner, Caroline; Bruschi, Fabio; Eichler, Florian S; Fatemi, Ali; García-Cazorla, Àngeles; Gomez-Chiari, Marta; Köhler, Wolfgang; Loes, Daniel; Lund, Troy; Mallack, Eric J; Moscatelli, Marco; Musolino, Patricia L; Nascene, David R; Orthmann-Murphy, Jennifer L; Parazzini, Cecilia; Pouwels, Petra J W; Ribeiro-Constante, Juliana; Roosendaal, Stefan D; Salsano, Ettore; Sgobbi, Paulo V; Sevin, Caroline; Smith Fine, Amena; Tonduti, Davide; Van Haren, Keith; Zerem, Ayelet; Engelen, Marc; Mochel, Fanny

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

MCT8 缺乏症中多巴胺代谢改变及对左旋多巴/卡比多巴治疗的反应

Bruschi, Fabio; Vaia, Ylenia; Antonello, Clara E; Spada, Marco; Porta, Francesco; Marinaccio, Cristina; Carducci, Claudia; Opladen, Thomas; Sartorelli, Jacopo; Zibordi, Federica Maria; Ghezzi, Daniele; Nicita, Francesco; Tonduti, Davide

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy

灰色地带项目:基于风险的X连锁肾上腺脑白质营养不良症ABCD1变异分类

Lund, Troy C; Miettunen, Kelly; Jaspers, Yorrick R J; Bergner, Caroline; Bonkowsky, Joshua L; Bruschi, Fabio; Cohen, Julie S; Dijkstra, Inge M E; Eichler, Florian S; Mallack, Eric J; Salomons, Gajja S; Thompson, Robert; Tonduti, Davide; van Haren, Keith P; Wamelink, Mirjam M C; Zerem, Ayelet; Engelen, Marc; Kemp, Stephan

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

碱性磷酸酶与婴儿型GM1神经节苷脂沉积症:一种复杂疾病的简单生物标志物?

Fiori, Laura; Turzi, Massimiliano; Tagi, Veronica Maria; Asnaghi, Laura; Bonaventura, Eleonora; Tonduti, Davide; Spaccini, Luigina; Saielli, Laura Assunta; Montanari, Chiara; Cairello, Francesca; Mannarino, Savina; Ferrario, Matilde; Del Longo, Alessandra; Napolitano, Marcello; Righini, Andrea; Semeraro, Michela; Venerando, Anna; Miceli, Martina; Verduci, Elvira; Zuccotti, Gianvincenzo

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum

早发性多动症是ATP8A2相关表型谱中最严重的表现形式。

Bruschi, Fabio; Antonello, Clara E; Parazzini, Cecilia; Vaia, Ylenia; Iascone, Maria; Tonduti, Davide

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

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives

远程医疗在罕见病个性化营养干预中的应用:方法、影响和未来展望的叙述性综述

Eletti, Francesca; Tagi, Veronica Maria; Greco, Ilenia Pia; Stucchi, Eliana; Fiore, Giulia; Bonaventura, Eleonora; Bruschi, Fabio; Tonduti, Davide; Verduci, Elvira; Zuccotti, Gianvincenzo

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review

遗传性代谢疾病患儿的内分泌系统紊乱:综述

Tagi, Veronica Maria; Fiori, Laura; Montanari, Chiara; Tonduti, Davide; Ferrario, Matilde; Gambino, Mirko; Greco, Ilenia Pia; Cecchini, Alessandra; Calcaterra, Valeria; Zuccotti, Gianvincenzo; Verduci, Elvira