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

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

来自欧洲麦卡德尔病患者登记处（EUROMAC）的数据：功能状态和社会参与

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02825-z
Karazi, Walaa; Scalco, Renata S; Stemmerik, Mads G; Løkken, Nicoline; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Kouwenberg, Carlyn V; Laforêt, Pascal; Millán, Beatriz San; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico; Trost, Rebecca; Sacconi, Sabrina; Durmus, Hacer; Kierdaszuk, Biruta; Wakelin, Andrew; Andreu, Antoni L; Pinós, Tomàs; Marti, Ramon; Quinlivan, Ros; Vissing, John; Voermans, Nicol C
发表日期：2023
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Personalized Precision Medicine for Health Care Professionals: Development of a Competency Framework

面向医疗保健专业人员的个性化精准医疗：能力框架的构建

期刊:
影响因子:
doi:10.2196/43656
Martin-Sanchez, Fernando; Lázaro, Martín; López-Otín, Carlos; Andreu, Antoni L; Cigudosa, Juan Cruz; Garcia-Barbero, Milagros
发表日期：2023
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Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

麦卡德尔病临床前研究：研究模型和治疗策略综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes13010074
Villarreal-Salazar, Mónica; Brull, Astrid; Nogales-Gadea, Gisela; Andreu, Antoni L; Martín, Miguel A; Arenas, Joaquín; Santalla, Alfredo; Lucia, Alejandro; Vissing, John; Krag, Thomas O; Pinós, Tomàs
发表日期：2021
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Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia

老年人 COVID-19 的临床特征：加泰罗尼亚长期护理院的一项回顾性研究

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0255141
Meis-Pinheiro, Uxío; Lopez-Segui, Francesc; Walsh, Sandra; Ussi, Anton; Santaeugenia, Sebastia; Garcia-Navarro, Jose Augusto; San-Jose, Antonio; Andreu, Antoni L; Campins, Magda; Almirante, Benito
发表日期：2021
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Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

糖原贮积症的临床前研究：现有动物模型的综合综述

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms21249621
Almodóvar-Payá, Aitana; Villarreal-Salazar, Mónica; de Luna, Noemí; Nogales-Gadea, Gisela; Real-Martínez, Alberto; Andreu, Antoni L; Martín, Miguel Angel; Arenas, Joaquin; Lucia, Alejandro; Vissing, John; Krag, Thomas; Pinós, Tomàs
发表日期：2020
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

建立和实施欧洲McArdle病及其他肌肉糖原贮积症患者登记系统（EUROMAC登记系统）

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01455-z
Pinós, Tomàs; Andreu, Antoni L; Bruno, Claudio; Hadjigeorgiou, Georgios M; Haller, Ronald G; Laforêt, Pascal; Lucía, Alejandro; Martín, Miguel A; Martinuzzi, Andrea; Navarro, Carmen; Oflazer, Piraye; Pouget, Jean; Quinlivan, Ros; Sacconi, Sabrina; Scalco, Renata S; Toscano, Antonio; Vissing, John; Vorgerd, Matthias; Wakelin, Andrew; Martí, Ramon
发表日期：2020
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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

来自欧洲 McArdle 病及其他肌肉糖原贮积症患者登记处 (EUROMAC) 的数据

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01562-x
Scalco, Renata S; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Voermans, Nicol C; Kouwenberg, Carlyn V; Laforêt, Pascal; San-Millán, Beatriz; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico; Trost, Rebeca; Sacconi, Sabrina; Stemmerik, Mads G; Durmus, Hacer; Kierdaszuk, Biruta; Wakelin, Andrew; Andreu, Antoni L; Pinós, Tomàs; Marti, Ramon; Quinlivan, Ros; Vissing, John
发表日期：2020
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Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

肌肉对耐力运动训练的分子适应受糖原可用性的调控：基于McArdle小鼠模型的蛋白质组学分析

期刊:Journal of Physiology-London
影响因子:4.4
doi:10.1113/JP275292
Fiuza-Luces, Carmen; Santos-Lozano, Alejandro; Llavero, Francisco; Campo, Rocío; Nogales-Gadea, Gisela; Díez-Bermejo, Jorge; Baladrón, Carlos; González-Murillo, África; Arenas, Joaquín; Martín, Miguel A; Andreu, Antoni L; Pinós, Tomàs; Gálvez, Beatriz G; López, Juan A; Vázquez, Jesús; Zugaza, José L; Lucia, Alejandro
信号转导
发表日期：2018
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

西班牙所有McArdle病患者的基因型和表型特征：2016年最新进展

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-017-4188-2
Santalla, Alfredo; Nogales-Gadea, Gisela; Encinar, Alberto Blázquez; Vieitez, Irene; González-Quintana, Adrian; Serrano-Lorenzo, Pablo; Consuegra, Inés García; Asensio, Sara; Ballester-Lopez, Alfonsina; Pintos-Morell, Guillem; Coll-Cantí, Jaume; Pareja-Galeano, Helios; Díez-Bermejo, Jorge; Pérez, Margarita; Andreu, Antoni L; Pinós, Tomàs; Arenas, Joaquín; Martín, Miguel A; Lucia, Alejandro
发表日期：2017
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Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

利用造血基因疗法在小鼠线粒体神经胃肠脑肌病模型中长期恢复胸苷磷酸化酶功能和核苷稳态

期刊:Human Gene Therapy
影响因子:4
doi:10.1089/hum.2015.160
Torres-Torronteras, Javier; Cabrera-Pérez, Raquel; Barba, Ignasi; Costa, Carme; de Luna, Noemí; Andreu, Antoni L; Barquinero, Jordi; Hirano, Michio; Cámara, Yolanda; Martí, Ramon
信号转导
线粒体
磷酸化
神经科学
发表日期：2016
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