Maresca Alessandra相关文献与解析，生知库

Moresco Monica, Tropeano Concetta Valentina, Romagnoli Martina, Neccia Giulia, Rapone Alessandro, Pizza Fabio, Vandi Stefano, Mignot Emmanuel, Maresca Alessandra, Carelli Valerio, Plazzi Giuseppe

其它

线粒体

发表日期：2025

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Radial Head Fractures: Is the Mason Classification Still Effective Today? A Large-Sample Validation of Intra- and Inter-Observer Reliability

桡骨头骨折：梅森分型在今天仍然有效吗？一项大样本的观察者内和观察者间可靠性验证研究

期刊:Journal of Clinical Medicine

影响因子:2.9

doi:10.3390/jcm14207252

Calderazzi, Filippo; Donelli, Davide; Marinelli, Alessandro; Bastia, Paolo; Galavotti, Cristina; Nosenzo, Alessandro; Lunini, Enricomaria; Maresca, Alessandra; Concari, Giorgio; Ciatti, Corrado

骨折

发表日期：2025

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Late-onset Leber's hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?

晚发性莱伯氏遗传性视神经病变与前列腺癌抗雄激素治疗：二者之间是否存在因果关系？

期刊:Frontiers in Neurology

影响因子:2.8

doi:10.3389/fneur.2025.1616992

Amore, Giulia; Carbonelli, Michele; D'Angeli, Diego; Bonan, Luigi; Faustini-Fustini, Marco; Maresca, Alessandra; Carelli, Valerio; La Morgia, Chiara

A proposal for computed tomography-based algorithm for the management of radial head and neck fractures: the Proximal and Articular Radial fractures Management (PARMa) classification

一种基于计算机断层扫描的桡骨头颈骨折管理算法提案：近端和关节桡骨骨折管理（PARMa）分类

期刊:JSES International

影响因子:

doi:10.1016/j.jseint.2024.09.031

Calderazzi, Filippo; Donelli, Davide; Galavotti, Cristina; Nosenzo, Alessandro; Bastia, Paolo; Lunini, Enricomaria; Paterlini, Marco; Concari, Giorgio; Maresca, Alessandra; Marinelli, Alessandro

骨折

发表日期：2025

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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

对116个自闭症家庭的基因组分析强化了已知的风险基因，并突出了有希望的候选基因。

期刊:npj Genomic Medicine

影响因子:4.8

doi:10.1038/s41525-024-00411-1

Viggiano, Marta; Ceroni, Fabiola; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Sandoni, Laura; Baravelli, Irene; Cameli, Cinzia; Rochat, Magali J; Maresca, Alessandra; Vaisfeld, Alessandro; Gentilini, Davide; Calzari, Luciano; Carelli, Valerio; Zody, Michael C; Maestrini, Elena; Bacchelli, Elena

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

隐性MECR致病变异会导致类似LHON的视神经病变。

期刊:Journal of Medical Genetics

影响因子:3.7

doi:10.1136/jmg-2023-109340

Fiorini, Claudio; Degiorgi, Andrea; Cascavilla, Maria Lucia; Tropeano, Concetta Valentina; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo

发表日期：2023

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Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

对罕见有害变异的全基因组分析为BRSK2和其他自闭症谱系障碍风险基因提供了进一步的证据。

期刊:

影响因子:

doi:10.21203/rs.3.rs-3468592/v1

Bacchelli, Elena; Viggiano, Marta; Ceroni, Fabiola; Visconti, Paola; Posar, Annio; Scaduto, Maria; Sandoni, Laura; Baravelli, Irene; Cameli, Cinzia; Rochat, Magali; Maresca, Alessandra; Vaisfeld, Alessandro; Gentilini, Davide; Calzari, Luciano; Carelli, Valerio; Zody, Michael; Maestrini, Elena

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

剖析线粒体基因组对自闭症谱系障碍的多方面影响

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2022.953762

Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

线粒体DNA变异波动在人类诱导多能干细胞重编程和神经元分化过程中的相关性

期刊:Stem Cell Reports

影响因子:5.1

doi:10.1016/j.stemcr.2021.06.016

Palombo, Flavia; Peron, Camille; Caporali, Leonardo; Iannielli, Angelo; Maresca, Alessandra; Di Meo, Ivano; Fiorini, Claudio; Segnali, Alice; Sciacca, Francesca L; Rizzo, Ambra; Levi, Sonia; Suomalainen, Anu; Prigione, Alessandro; Broccoli, Vania; Carelli, Valerio; Tiranti, Valeria

Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve

视神经遗传性神经退行性疾病的分子机制

期刊:Biomolecules

影响因子:4.8

doi:10.3390/biom11040496

Maresca, Alessandra; Carelli, Valerio

神经科学

发表日期：2021

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Elevated circulating cell-free mitochondrial DNA level in cerebrospinal fluid of narcolepsy type 1.

型嗜睡症患者脑脊液中循环游离线粒体 DNA 水平升高

Radial Head Fractures: Is the Mason Classification Still Effective Today? A Large-Sample Validation of Intra- and Inter-Observer Reliability

桡骨头骨折：梅森分型在今天仍然有效吗？一项大样本的观察者内和观察者间可靠性验证研究

Late-onset Leber's hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?

晚发性莱伯氏遗传性视神经病变与前列腺癌抗雄激素治疗：二者之间是否存在因果关系？

A proposal for computed tomography-based algorithm for the management of radial head and neck fractures: the Proximal and Articular Radial fractures Management (PARMa) classification

一种基于计算机断层扫描的桡骨头颈骨折管理算法提案：近端和关节桡骨骨折管理（PARMa）分类

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

对116个自闭症家庭的基因组分析强化了已知的风险基因，并突出了有希望的候选基因。

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

隐性MECR致病变异会导致类似LHON的视神经病变。

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

对罕见有害变异的全基因组分析为BRSK2和其他自闭症谱系障碍风险基因提供了进一步的证据。

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

剖析线粒体基因组对自闭症谱系障碍的多方面影响

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

线粒体DNA变异波动在人类诱导多能干细胞重编程和神经元分化过程中的相关性

Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve

视神经遗传性神经退行性疾病的分子机制