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

Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report

晚发性戊二酸尿症1型患者的脑形态测量和认知功能：范围综述及病例报告的新见解

期刊:Neurological Sciences
影响因子:2.4
doi:10.1007/s10072-026-08886-9
Veronelli, Laura; Commone, Anna; Botti, Mara; Remida, Paolo; Grande, Eleonora; Vallar, Giuseppe; Parini, Rossella
神经科学
发表日期：2026
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Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA

病例报告：成功治疗一例罕见的急性淋巴细胞白血病合并IVA型粘多糖贮积症患者

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1644720
Arnaboldi, Sofia Maria Carlotta; Faraguna, Martha Caterina; Colombini, Antonella; Sala, Alessandra; Leoni, Veronica; Spinelli, Marco; Gotti, Giacomo; Bettini, Laura Rachele; Crescitelli, Viola; Commone, Anna; Gasperini, Serena; Rizzari, Carmelo
白血病
细胞生物学
发表日期：2025
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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

晚发型鸟氨酸氨甲酰转移酶缺乏症的父女遗传：一种被低估的X连锁疾病遗传机制

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02997-8
Siri, Barbara; Olivieri, Giorgia; Lepri, Francesca Romana; Poms, Martin; Goffredo, Bianca Maria; Commone, Anna; Novelli, Antonio; Häberle, Johannes; Dionisi-Vici, Carlo
发表日期：2024
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Newborn Screening for Fabry Disease: Current Status of Knowledge

新生儿法布里病筛查：当前知识状况

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns9020031
Gragnaniello, Vincenza; Burlina, Alessandro P; Commone, Anna; Gueraldi, Daniela; Puma, Andrea; Porcù, Elena; Stornaiuolo, Maria; Cazzorla, Chiara; Burlina, Alberto B
发表日期：2023
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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Zellweger谱系障碍和X连锁肾上腺脑白质营养不良患者中MAPK通路异常激活和自噬抑制

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02940-x
Gragnaniello, Vincenza; Gueraldi, Daniela; Puma, Andrea; Commone, Anna; Cazzorla, Chiara; Loro, Christian; Porcù, Elena; Stornaiuolo, Maria; Miglioranza, Paolo; Salviati, Leonardo; Wanders, Ronald J A; Burlina, Alberto
信号转导
神经科学
MAPK/ERK
自噬
免疫/内分泌
发表日期：2023
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Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

庞贝病患者非致密性心肌肥厚性心肌病的异常演变

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm12062365
Gragnaniello, Vincenza; Rizzardi, Caterina; Commone, Anna; Gueraldi, Daniela; Maines, Evelina; Salviati, Leonardo; Di Salvo, Giovanni; Burlina, Alberto B
心血管
心肌病
发表日期：2023
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Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

肝糖原贮积症0型、VI型和IX型：意大利队列研究描述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02431-5
Tagliaferri, Francesco; Massese, Miriam; Russo, Luisa; Commone, Anna; Gasperini, Serena; Pretese, Roberta; Dionisi-Vici, Carlo; Maiorana, Arianna
发表日期：2022
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Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

线粒体分裂因子基因改变患者的临床和生化特征

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2018.00625
Nasca Alessia, Nardecchia Francesca, Commone Anna, Semeraro Michela, Legati Andrea, Garavaglia Barbara, Ghezzi Daniele, Leuzzi Vincenzo
线粒体
发表日期：2018
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