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

Altered Pore Composition and Flexibility in a Deafness-Associated TMC1 Variant: Insights from Molecular Dynamics Simulations

耳聋相关TMC1变异体中孔隙组成和柔性的改变：来自分子动力学模拟的启示

期刊:ACS Chemical Neuroscience
影响因子:3.9
doi:10.1021/acschemneuro.5c00546
Zamboni, Davide; Marino, Valerio; Avesani, Anna; Dal Cortivo, Giuditta; Lattanzi, Gianluca; Dell'Orco, Daniele
发表日期：2025
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Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding

先天性心律失常相关的钙调蛋白错义变异对热稳定性和展开程度的影响

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-023-02629-y
Dal Cortivo, Giuditta; Marino, Valerio; Zamboni, Davide; Dell'Orco, Daniele
发表日期：2025
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Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

对TUBB4B基因中两个热点密码子及其相关表型的综合分析

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-61019-0
Bodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kühlewein, Laura
UBB
发表日期：2024
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Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

TULP1基因的双等位基因变异与视网膜营养不良的异质性表型相关

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24032709
Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B; Biskup, Saskia; Kohl, Susanne; Kühlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole
发表日期：2023
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Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias

先天性心律失常中钙调蛋白-心脏兰尼碱受体分子识别的改变

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-022-04165-w
Dal Cortivo, Giuditta; Barracchia, Carlo Giorgio; Marino, Valerio; D'Onofrio, Mariapina; Dell'Orco, Daniele
信号转导
发表日期：2022
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Editorial: Interactions of nanoparticles with and within living organisms-What can we learn to improve efficacy of nanomedicine?

社论：纳米颗粒与生物体及其内部的相互作用——我们能从中学习到什么来提高纳米医学的疗效？

期刊:Frontiers in Molecular Biosciences
影响因子:4
doi:10.3389/fmolb.2022.1044063
Meyer, N Helge; Corbo, Claudia; Castro, Guillermo R; Stjepanovic, Goran; Genchi, Giada G; Marino, Valerio
发表日期：2022
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Calmodulin variants associated with congenital arrhythmia impair selectivity for ryanodine receptors.

与先天性心律失常相关的钙调蛋白变异会损害对兰尼碱受体的选择性

期刊:Frontiers in Molecular Biosciences
影响因子:4
doi:10.3389/fmolb.2022.1100992
Dal Cortivo Giuditta, Marino Valerio, Bianconi Silvia, Dell'Orco Daniele
其它
发表日期：2022
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Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

OPA1 GTPase 编码结构域中分裂密码子的突变通过不同的分子机制导致显性视神经萎缩

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddab286
Weisschuh Nicole, Marino Valerio, Schäferhoff Karin, Richter Paul, Park Joohyun, Haack Tobias B, Dell'Orco Daniele
神经科学
发表日期：2022
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Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells

一种新型GCAP1变体的Ca(2+)敏感性受损导致视锥细胞营养不良，并导致光感受器和双极细胞之间异常的突触传递。

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms22084030
Marino, Valerio; Dal Cortivo, Giuditta; Maltese, Paolo Enrico; Placidi, Giorgio; De Siena, Elisa; Falsini, Benedetto; Bertelli, Matteo; Dell'Orco, Daniele
CAP1
细胞生物学
神经科学
发表日期：2021
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Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

常染色体显性遗传回旋状萎缩样脉络膜营养不良症再探：45 年随访及与新型 C1QTNF5 错义变异的关联

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms22042089
Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortüm, Friederike; Mazzola, Pascale; Schäferhoff, Karin; Marino, Valerio; Dell'Orco, Daniele
发表日期：2021
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