日期 影响因子
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

期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.27071
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
免疫/内分泌
线粒体
发表日期：2024
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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

更正：在新生儿筛查中实施二级检测以检测维生素B12相关获得性和遗传性疾病：258,637名新生儿的结果

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02793-4
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Toro, Mireia Del; García-Cazorla, Ángeles; Navarro-Sastre, Aleix; López, Rosa María; Meavilla, Silvia María; de Los Santos, Mariela Mercedes; García-Volpe, Camila; de Aledo-Castillo, Jose Manuel González; Argudo, Ana; Marín, Jose Luís; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernández, Rosa; García-Villoria, Judit; Ribes, Antonia
发表日期：2023
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Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

人类线粒体呼吸链缺陷诊断方案的多中心标准化

期刊:Antioxidants
影响因子:6.6
doi:10.3390/antiox11040741
Bujan, Nuria; Morén, Constanza; García-García, Francesc J; Blázquez, Alberto; Carnicer, Clara; Cortés, Ana Belén; González, Cristina; López-Gallardo, Ester; Lozano, Ester; Moliner, Sonia; Gort, Laura; Tobías, Ester; Delmiro, Aitor; Martin, Miguel Ángel; Fernández-Moreno, Miguel Ángel; Ruiz-Pesini, Eduardo; Garcia-Arumí, Elena; Rodríguez-Aguilera, Juan Carlos; Garrabou, Glòria
Human
线粒体
发表日期：2022
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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

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm11061749
Segur-Bailach, Eulàlia; Ugarteburu, Olatz; Tort, Frederic; Texido, Laura; Painous, Celia; Compta, Yaroslau; Martí, Maria José; Ribes, Antonia; Gort, Laura
TFEB
信号转导
帕金森
神经科学
线粒体
发表日期：2022
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Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns

在新生儿筛查中实施二级检测以检测维生素B12相关获得性和遗传性疾病：258,637名新生儿的结果

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-01784-7
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; García-Cazorla, Ángeles; Navarro-Sastre, Aleix; López, Rosa María; Meavilla, Silvia María; de Los Santos, Mariela Mercedes; García-Volpe, Camila; de Aledo-Castillo, Jose Manuel González; Argudo, Ana; Marín, Jose Luís; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernández, Rosa; García-Villoria, Judit; Ribes, Antonia
发表日期：2021
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Leigh syndrome associated with TRMU gene mutations

与TRMU基因突变相关的莱氏综合征

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2020.100690
Sala-Coromina, Júlia; Miguel, Lucía Dougherty-de; de Las Heras, Javier; Lasa-Aranzasti, Amaia; Garcia-Arumi, Elena; Carreño, Lidia; Arranz, Jose Antonio; Carnicer, Clara; Unceta-Suárez, María; Sanchez-Montañez, Angel; Gort, Laura; Tort, Frederic; Del Toro, Mireia
发表日期：2021
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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

产前黏多糖贮积症VII型：GUSB基因中发现一种新的致病变异

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.3644
Poyatos-Andújar, Antonio Miguel; García-Linares, Susana; Carretero, Pilar; Ocon, Olga; Fresneda, Dolores; Gort, Laura; Molina García, Francisa Sonia
发表日期：2021
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Datasets describing the introduction of the high-sensitive troponin in the emergency department

描述高敏肌钙蛋白在急诊科应用情况的数据集

期刊:Data in Brief
影响因子:1.4
doi:10.1016/j.dib.2020.105481
Burgstaller, Jakob M; Held, Ulrike; Gravestock, Isaac; Klauser, Benjamin S; Gort, Laura M; Melzer, Lina; Hasler, Susann; Bierreth, Tenzin D; Müller, Sarah E; Steurer, Johann; Wertli, Maria M
发表日期：2020
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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

一项针对大量经基因诊断确诊为线粒体疾病的儿科患者的研究发现，肌肉受累情况较为严重。

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm8010068
Jou, Cristina; Ortigoza-Escobar, Juan D; O'Callaghan, Maria M; Nascimento, Andres; Darling, Alejandra; Pias-Peleteiro, Leticia; Perez-Dueñas, Belén; Pineda, Mercedes; Codina, Anna; Arjona, César; Armstrong, Judith; Palau, Francesc; Ribes, Antonia; Gort, Laura; Tort, Frederic; Navas, Placido; Ruiz-Pesini, Eduardo; Emperador, Sonia; Lopez-Gallardo, Ester; Bayona-Bafaluy, Pilar; Montero, Raquel; Jimenez-Mallebrera, Cecilia; Garcia-Cazorla, Angels; Montoya, Julio; Yubero, Delia; Artuch, Rafael
线粒体
发表日期：2019
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Non-cardiac chest pain patients in the emergency department: Do physicians have a plan how to diagnose and treat them? A retrospective study

急诊科非心脏性胸痛患者：医生是否有诊断和治疗方案？一项回顾性研究

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0211615
Wertli, Maria M; Dangma, Tenzin D; Müller, Sarah E; Gort, Laura M; Klauser, Benjamin S; Melzer, Lina; Held, Ulrike; Steurer, Johann; Hasler, Susann; Burgstaller, Jakob M
发表日期：2019
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