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

Blood mitochondrial heteroplasmic variants and cognitive performance in late midlife: REGARDS study

血液线粒体异质性变异与中年晚期认知能力：REGARDS 研究

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-026-04857-x
Prada, Diddier; Morava-Kozicz, Eva; Rajendrakumar, Aravind Lathika; Kupsco, Allison; Lesseur, Corina; Irizar, Haritz; Cantú-de-Leon, David; García-Cuellar, Claudia; Ramírez, Andrea; González-Ruíz, Jonathan; Horowitz, Carol R; Cushman, Mary; Manly, Jennifer; Judd, Suzanne; Bagiella, Emilia; Baccarelli, Andrea; Parks, Robbie
线粒体
神经科学
发表日期：2026
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Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

弗里德赖希共济失调和ALG1相关生化异常在进行性痉挛性截瘫患者中的病例报告

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63890
Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth
其它
发表日期：2025
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Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

外显子组测序可能将UBA1基因中体细胞变异的高变异等位基因频率误读为VEXAS综合征中的半合子：病例报告

期刊:BMC Rheumatology
影响因子:2.5
doi:10.1186/s41927-022-00281-z
Wilke, Matheus V M B; Morava-Kozicz, Eva; Koster, Matthew J; Schmitz, Christopher T; Foster, Shannon Kaye; Patnaik, Mrinal; Warrington, Kenneth J; Klee, Eric W; Pinto E Vairo, Filippo
细胞生物学
UBA1
发表日期：2022
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