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

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia

罕见儿童期发病遗传性痉挛性截瘫患者的健康相关生活质量

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.70244
Schmidt, Henri J D; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Carty, Siofra; Quiroz, Vicente; Yang, Kathryn; Zaman, Zainab; Schierbaum, Luca; Bernardi, Katerina; Alecu, Julian E; Ebrahimi-Fakhari, Darius
发表日期：2026
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Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia

ATG9A 比值在 AP-4 相关遗传性痉挛性截瘫诊断中的应用价值

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.70308
Agianda, Habibah A P; Kim, Hyo-Min; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Gonzalez Saez-Diez, Enrique; Boerkoel, Cornelius F; Saffari, Afshin; Quiroz, Vicente; Schierbaum, Luca; Zaman, Zainab; Bernardi, Katerina; Ebrahimi-Fakhari, Darius
发表日期：2026
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MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

MaveDB 2024：一个经过精心整理的社区数据库，包含来自多重功能分析的超过七百万个变异效应

期刊:Genome Biology
影响因子:9.4
doi:10.1186/s13059-025-03476-y
Rubin, Alan F; Stone, Jeremy; Bianchi, Aisha Haley; Capodanno, Benjamin J; Da, Estelle Y; Dias, Mafalda; Esposito, Daniel; Frazer, Jonathan; Fu, Yunfan; Grindstaff, Sally B; Harrington, Matthew R; Li, Iris; McEwen, Abbye E; Min, Joseph K; Moore, Nick; Moscatelli, Olivia G; Ong, Jesslyn; Polunina, Polina V; Rollins, Joshua E; Rollins, Nathan J; Snyder, Ashley E; Tam, Amy; Wakefield, Matthew J; Ye, Shenyi Sunny; Starita, Lea M; Bryant, Vanessa L; Marks, Debora S; Fowler, Douglas M
发表日期：2025
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Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

基于横断面数据的HPDL相关疾病的定量自然史模型揭示了基因型-表型相关性

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101349
Alecu, Julian E; Tam, Amy; Richter, Silja; Quiroz, Vicente; Schierbaum, Luca; Saffari, Afshin; Ebrahimi-Fakhari, Darius
发表日期：2025
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Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome

TECPR2相关遗传性感觉自主神经病和Temple综合征的混合表型

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.52293
Zubair, Umar; Yang, Kathryn; Schierbaum, Luca; Tam, Amy; Battaglia, Nicole; Rong, Joshua; Quiroz, Vicente; Ebrahimi-Fakhari, Darius
TEC
发表日期：2025
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Heterozygous variants in AP4S1 are not associated with a neurological phenotype

AP4S1的杂合变异与神经系统表型无关

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.52302
Quiroz, Vicente; Zubair, Umar; Schierbaum, Luca; Tam, Amy; Battaglia, Nicole; Rong, Joshua; Agianda, Habibah A P; Alecu, Julian E; Yang, Kathryn; Ebrahimi-Fakhari, Darius
发表日期：2025
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Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series

CPT1C相关遗传性痉挛性截瘫（SPG73）的分子和临床谱系不断扩展——病例系列研究

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.52288
Brooks, Alexandra K; Quiroz, Vicente; Schierbaum, Luca; Tam, Amy; Alecu, Julian E; Ebrahimi-Fakhari, Darius
发表日期：2025
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Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis

婴儿期发病的上行性遗传性痉挛性麻痹患儿血浆神经丝轻链水平升高

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.70157
Zubair, Umar; Battaglia, Nicole; Alecu, Julian E; Tam, Amy; Rong, Joshua; Quiroz, Vicente; Yang, Kathryn; Kim, Hyo-Min; Warren, Kaitlyn; Mannix, Rebekah; Della Vecchia, Stefania; Santorelli, Filippo Maria; Ebrahimi-Fakhari, Darius
发表日期：2025
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STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

STUB1相关常染色体隐性遗传性脊髓小脑性共济失调16型（SCAR16）伴戈登-霍姆斯综合征，由母系单亲同源二体性引起

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.14322
Agianda, Habibah A P; Tam, Amy; Kunta, Avaneesh; Zubair, Umar; Saffari, Afshin; Rong, Joshua; Crough, Michelle; Srouji, Rasha; Quiroz, Vicente; Yang, Kathryn; Schierbaum, Luca; Ebrahimi-Fakhari, Darius
神经科学
发表日期：2025
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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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