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

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

鸟苷酸激酶 1 缺乏症:一种新型且可能可治疗的线粒体 DNA 耗竭/缺失疾病

Hidalgo-Gutierrez Agustin, Shintaku Jonathan, Ramon Javier, Barriocanal-Casado Eliana, Pesini Alba, Saneto Russell P, Garrabou Gloria, Milisenda Jose Cesar, Matas-Garcia Ana, Gort Laura, Ugarteburu Olatz, Gu Yue, Koganti Lahari, Wang Tian, Tadesse Saba, Meneri Megi, Sciacco Monica, Wang Shuang, Tanji Kurenai, Horwitz Marshall S, Dorschner Michael O, Mansukhani Mahesh, Comi Giacomo Pietro, Ronchi Dario, Marti Ramon, Ribes Antonia, Tort Frederic, Hirano Michio

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

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

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

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

MMPs/TIMPs and inflammatory signalling de-regulation in human incisional hernia tissues

人类切口疝组织中的 MMPs/TIMPs 和炎症信号失调

Jordi Guillen-Marti, Ramon Diaz, Maria T Quiles, Manuel Lopez-Cano, Ramon Vilallonga, Pere Huguet, Santiago Ramon-y-Cajal, Albert Sanchez-Niubo, Jaume Reventós, Manel Armengol, Maria A Arbos