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

Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis.

小鼠病理性弗拉塔辛缺乏会导致组织特异性的铁稳态改变。

Pazos-Gil Maria, Medina-Carbonero Marta, Sanz-Alcázar Arabela, Portillo-Carrasquer Marta, Oliveira-Jorge Luiza, Hernández Gonzalo, Sánchez Mayka, Delaspre Fabien, Cabiscol Elisa, Ros Joaquim, Tamarit Jordi

Early motor deficits, sleep dysfunction and reduction in dopaminergic neurons in a PARK7(-/-) zebrafish larval model of Parkinson's disease

帕金森病PARK7(-/-)斑马鱼幼体模型早期出现运动功能障碍、睡眠障碍和多巴胺能神经元减少

Solheim, Nora; Pinho, Brígida R; Oliveira, Nuno A S; Lima, Leonor P; Børve, Aina; Oliveira, Jorge M A; Fladmark, Kari E

The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes

PERK抑制剂GSK2606414可引起斑马鱼发育缺陷,与沃尔科特-拉利森综合征表型一致。

Almeida, Liliana M; Lima, Leonor Pereira; Oliveira, Nuno A S; Silva, Rui F O; Sousa, Bruno; Bessa, José; Pinho, Brígida R; Oliveira, Jorge M A

Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.

靶向线粒体去泛素化酶 USP30 以诱导异质性线粒体疾病中的线粒体自噬。

Pinho Brígida R, Martins Vasco, Chacko Anitta R, Nogueira Célia, Duchen Michael R, Oliveira Jorge M A

The Portuguese Beacon: sharing genomic variant data safely

葡萄牙灯塔:安全共享基因组变异数据

Oliveira, Jorge S; Sant'Ana, Sara; Santos, Miguel; Faria, Daniel

Mites present in small terrestrial mammals in a preserved unit inside the Atlantic rainforest including pathogen monitoring

在大西洋雨林保护区内小型陆生哺乳动物体内发现的螨虫,包括病原体监测

Pesenato, Isabella Pereira; de Castro Jacinavicius, Fernando; Bassini-Silva, Ricardo; de Oliveira Jorge Costa, Jaciara; Soares, Herbert Sousa; Fakelmann, Thiago; Castelli, Giovanna Nosberto; de Oliveira, Mayara Bispo; da Costa Silva, Guiherme José; Onofrio, Valeria Castilho; Nieri-Bastos, Fernanda Aparecida; Marcili, Arlei

Evaluation of the trade-off between variety, processing, and low-GI claim in ready-to-eat rice

评估即食大米中品种、加工方式和低升糖指数声明之间的权衡关系

Cabral, Diva; Fonseca, Susana C; Rocha, Célia; Moura, Ana P; Oliveira, Jorge C; Cunha, Luís M

Cardiac amyloidosis detection from a single echocardiographic video clip: a novel artificial intelligence-based screening tool

基于单次超声心动图视频片段的心脏淀粉样变性检测:一种新型的基于人工智能的筛查工具

Slivnick, Jeremy A; Hawkes, Will; Oliveira, Jorge; Woodward, Gary; Akerman, Ashley; Gomez, Alberto; Hamza, Izhan; Desai, Viral K; Barrett-O'Keefe, Zachary; Grogan, Martha; Dispenzieri, Angela; Scott, Christopher G; Davison, Halley N; Cotella, Juan; Maurer, Mathew; Helmke, Stephen; Scherrer-Crosbie, Marielle; Soltani, Marwa; Goyal, Akash; Zareba, Karolina M; Cheng, Richard K; Kirkpatrick, James N; Kitano, Tetsuji; Takeuchi, Masaaki; Hotta, Viviane Tiemi; Campos Vieira, Marcelo Luiz; Elissamburu, Pablo; Ronderos, Ricardo E; Prado, Aldo; Koutroumpakis, Efstratios; Deswal, Anita; Pursnani, Amit; Sarswat, Nitasha; Patel, Amit R; Addetia, Karima; Ruberg, Frederick L; Randazzo, Michael; Asch, Federico M; O'Driscoll, Jamie; Al-Roub, Nora; Strom, Jordan B; Kidd, Liam; Cuddy, Sarah; Upton, Ross; Lang, Roberto M; Pellikka, Patricia A

A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report

X染色体上一种新型大片段重复导致家族性全身性肌张力障碍:病例报告

Costa, António; Pereira, Diogo; Malaquias, Maria João; Brandão, Ana Filipa; Oliveira, Jorge; Magalhães, Marina

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals

3972 例个体样本中全外显子组测序 (WES) 数据的医学可操作性次要发现

Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João Parente; Antunes, Diana; Oliveira, Jorge