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

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh 综合征是 PTCD3 缺陷的主要临床特征

Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Delia Yubero, Angels García-Cazorla, Mar O'Callaghan, Jaume Campistol, Jordi Muchart, Vicente A Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Ros

Treatments for hearing loss in osteogenesis imperfecta: a systematic review and meta-analysis on their efficacy

成骨不全症听力损失的治疗方法:疗效的系统评价和荟萃分析

Ugarteburu, Maialen; Cardoso, Luis; Richter, Claus-Peter; Carriero, Alessandra

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease

帕金森病中线粒体、溶酶体和TFEB调控基因的过度突变

Segur-Bailach, Eulàlia; Ugarteburu, Olatz; Tort, Frederic; Texido, Laura; Painous, Celia; Compta, Yaroslau; Martí, Maria José; Ribes, Antonia; Gort, Laura

Prospective International Multicenter Pelvic Floor Study: Short-Term Follow-Up and Clinical Findings for Combined Pectopexy and Native Tissue Repair

前瞻性国际多中心盆底研究:联合耻骨固定术和自体组织修复的短期随访和临床结果

Noé, Günter K; Schiermeier, Sven; Papathemelis, Thomas; Fuellers, Ulrich; Khudyakovd, Alexander; Altmann, Harald-Hans; Borowski, Stefan; Morawski, Pawel P; Gantert, Markus; De Vree, Bart; Tkacz, Zbigniew; Ugarteburu, Rodrigo Gil; Anapolski, Michael

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

HACE1 突变引起疾病的病理生理基础:自噬、线粒体自噬和氧化应激反应的改变

Olatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, Tamara Barcos-Rodríguez, Gloria Garrabou, Judit García-Villoria, Antonia Ribes, Frederic Tort

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

新生儿筛查中的一项偶然发现,最终确诊一名患者患有 ECHS1 基因突变。

Pajares, S; López, R M; Gort, L; Argudo-Ramírez, A; Marín, J L; González de Aledo-Castillo, J M; García-Villoria, J; Arranz, J A; Del Toro, M; Tort, F; Ugarteburu, O; Casellas, M D; Fernández, R; Ribes, A

Rehabilitating mussel beds in Coffee Bay, South Africa: Towards fostering cooperative small-scale fisheries governance and enabling community upliftment

南非咖啡湾贻贝床的修复:促进合作型小规模渔业治理和提升社区福祉

Calvo-Ugarteburu, Gurutze; Raemaekers, Serge; Halling, Christina

Laparo-endoscopic stone surgery: advantages of an alternative approach

腹腔镜取石术:一种替代方法的优势

Baldissera Aradas, José Vicente; Rodríguez Villamil, Luis; Cruceyra Betriu, Guillermo; Fernández-Pello Montes, Sergio; González Rodríguez, Iván; Gil Ugarteburu, Rodrigo; Mosquera Madera, Javier