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

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.

血液中 DDIT4 和 TRIM13 转录水平标志着马查多-约瑟夫病的早期阶段

期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.27222
Ferreira Ana F, Raposo Mafalda, Shaw Emily D, Liu Louisa, Vasconcelos João, Kay Teresa, Bettencourt Conceição, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach, Costa Maria do Carmo, Lima Manuela
DDIT4
发表日期：2025
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Early onset obesity due to a mutation in the human leptin receptor gene

由于人类瘦素受体基因突变导致的早发性肥胖

期刊:Endocrinology, Diabetes and Metabolism Case Reports
影响因子:0.7
doi:10.1530/EDM-21-0124
Chaves, Carolina; Kay, Teresa; Anselmo, João
信号转导
肥胖
代谢
发表日期：2022
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Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)

眼球震颤是马查多-约瑟夫病（MJD/SCA3）的早期眼部改变

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/1471-2377-14-17
Raposo, Mafalda; Vasconcelos, João; Bettencourt, Conceição; Kay, Teresa; Coutinho, Paula; Lima, Manuela
发表日期：2014
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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

马查多-约瑟夫病（MJD/SCA3）中的帕金森表型：两例病例报告

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/1471-2377-11-131
Bettencourt, Conceição; Santos, Cristina; Coutinho, Paula; Rizzu, Patrizia; Vasconcelos, João; Kay, Teresa; Cymbron, Teresa; Raposo, Mafalda; Heutink, Peter; Lima, Manuela
帕金森
神经科学
发表日期：2011
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The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

Machado-Joseph病基因(ATXN3)的(CAG)n重复序列：患者和对照组DNA和mRNA的比较

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2009.215
Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael; Kay, Teresa; Vasconcelos, João; Maciel, Patrícia; Lima, Manuela
发表日期：2010
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