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

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

病例报告：一例伴有线状体和糖原沉积增加的患者发现一种新的ACTA1变异体。

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2024.1340693
Piga, Daniela; Rimoldi, Martina; Magri, Francesca; Zanotti, Simona; Napoli, Laura; Ripolone, Michela; Pagliarani, Serena; Ciscato, Patrizia; Velardo, Daniele; D'Amico, Adele; Bertini, Enrico; Comi, Giacomo Pietro; Ronchi, Dario; Corti, Stefania
ACTA
发表日期：2024
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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

缺血性视神经病变是携带m.3243 A > G MELAS经典突变患者的首发症状。

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-023-03198-3
Scarcella, Simone; Dell'Arti, Laura; Gagliardi, Delia; Magri, Francesca; Govoni, Alessandra; Velardo, Daniele; Mainetti, Claudia; Minorini, Valeria; Ronchi, Dario; Piga, Daniela; Comi, Giacomo Pietro; Corti, Stefania; Meneri, Megi
发表日期：2023
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Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

病例报告：罕见的纯合RNASEH1突变与成人发病型线粒体脑肌病和多发性线粒体DNA缺失相关

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.906667
Manini, Arianna; Caporali, Leonardo; Meneri, Megi; Zanotti, Simona; Piga, Daniela; Arena, Ignazio Giuseppe; Corti, Stefania; Toscano, Antonio; Comi, Giacomo Pietro; Musumeci, Olimpia; Carelli, Valerio; Ronchi, Dario
线粒体
神经科学
发表日期：2022
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A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

一种与线粒体DNA耗竭综合征相关的新型RRM2B突变

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2022.100887
Fumagalli, Monica; Ronchi, Dario; Bedeschi, Maria Francesca; Manini, Arianna; Cristofori, Gloria; Mosca, Fabio; Dilena, Robertino; Sciacco, Monica; Zanotti, Simona; Piga, Daniela; Ardissino, Gianluigi; Triulzi, Fabio; Corti, Stefania; Comi, Giacomo P; Salviati, Leonardo
线粒体
发表日期：2022
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Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies

RYR1相关先天性肌病新生儿病例的早期发现

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2021.664618
Mauri, Eleonora; Piga, Daniela; Govoni, Alessandra; Brusa, Roberta; Pagliarani, Serena; Ripolone, Michela; Dilena, Robertino; Cinnante, Claudia; Sciacco, Monica; Cassandrini, Denise; Nigro, Vincenzo; Bresolin, Nereo; Corti, Stefania; Comi, Giacomo P; Magri, Francesca
RYR
RYR1
发表日期：2021
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TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.

TYMP 变异导致迟发性线粒体肌病，并伴有肌肉线粒体 DNA 稳态改变

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2020.00860
Ronchi Dario, Caporali Leonardo, Manenti Giulia Francesca, Meneri Megi, Mohamed Susan, Bordoni Andreina, Tagliavini Francesca, Contin Manuela, Piga Daniela, Sciacco Monica, Saetti Cristina, Carelli Valerio, Comi Giacomo Pietro
其它
线粒体
发表日期：2020
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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

用于研究和治疗杜氏肌营养不良症和贝克尔肌营养不良症的人类诱导多能干细胞模型

期刊:Therapeutic Advances in Neurological Disorders
影响因子:4.1
doi:10.1177/1756286419833478
Piga, Daniela; Salani, Sabrina; Magri, Francesca; Brusa, Roberta; Mauri, Eleonora; Comi, Giacomo P; Bresolin, Nereo; Corti, Stefania
细胞生物学
发育与干细胞
Human
干细胞
发表日期：2019
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Novel mutations in DNA2 associated with myopathy and mtDNA instability

与肌病和线粒体DNA不稳定相关的DNA2新突变

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.50888
Ronchi, Dario; Liu, Changwei; Caporali, Leonardo; Piga, Daniela; Li, Hongzhi; Tagliavini, Francesca; Valentino, Maria Lucia; Ferrò, Maria Teresa; Bini, Paola; Zheng, Li; Carelli, Valerio; Shen, Binghui; Comi, Giacomo Pietro
DNA2
线粒体
发表日期：2019
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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

肠假性梗阻是否可诱发晚发型MELAS综合征患者反复出现卒中样发作？病例报告及文献综述

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2019.00038
Gagliardi, Delia; Mauri, Eleonora; Magri, Francesca; Velardo, Daniele; Meneri, Megi; Abati, Elena; Brusa, Roberta; Faravelli, Irene; Piga, Daniela; Ronchi, Dario; Triulzi, Fabio; Peverelli, Lorenzo; Sciacco, Monica; Bresolin, Nereo; Comi, Giacomo Pietro; Corti, Stefania; Govoni, Alessandra
发表日期：2019
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Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

由p.R304W STIM1突变引起的斯托莫肯综合征：首例意大利患者及文献综述

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2018.00859
Borsani, Oscar; Piga, Daniela; Costa, Stefania; Govoni, Alessandra; Magri, Francesca; Artoni, Andrea; Cinnante, Claudia M; Fagiolari, Gigliola; Ciscato, Patrizia; Moggio, Maurizio; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania
STIM1
TIM
发表日期：2018
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