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

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

托斯卡纳新生儿异染性脑白质营养不良筛查：成功预防医学项目的典范

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11020030
Malvagia, Sabrina; Bettiol, Alessandra; Porcaro, Margherita; Mura, Massimo; Funghini, Silvia; Ombrone, Daniela; Forni, Giulia; Scolamiero, Emanuela; Coppi, Filippo; Damiano, Roberta; Cereda, Cristina; Simonetti, Simonetta; Lonetti, Annalisa; Daniotti, Marta; Caciotti, Anna; Morrone, Amelia; Calbi, Valeria; Fumagalli, Francesca; Aiuti, Alessandro; Procopio, Elena; Guerrini, Renzo; la Marca, Giancarlo
神经科学
发表日期：2025
文献求助 收藏

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

神经退行性疾病成人患者中GALC基因变异的患病率较高

期刊:European Journal of Neurology
影响因子:3.9
doi:10.1111/ene.70206
Feo, Federica; Tramacere, Luciana; Ramat, Silvia; Govoni, Alessandra; Caremani, Luca; Grigioni, Giulia; Mei, Davide; Falliano, Silvia; Marin, Francesca; Ferri, Lorenzo; Paoli, Antonella; Rinaldi, Marina; la Marca, Giancarlo; Ombrone, Daniela; Procopio, Elena; Guerrini, Renzo; Morrone, Amelia; Caciotti, Anna
神经科学
发表日期：2025
文献求助 收藏

Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses

肥胖作为威尔逊病诊断中的混杂因素：两名基因型相同但临床病程不同的兄弟姐妹的病例报告

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb46060365
Bracciamà, Emanuele; Sapuppo, Annamaria; Rapisarda, Laura; Siciliano, Enrico; Caciotti, Anna; Morrone, Amelia; Ruggieri, Martino; Cantarella, Giuseppina; Bernardini, Renato; Bertino, Gaetano
肥胖
代谢
发表日期：2024
文献求助 收藏

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis

合成一种新型 β-半乳糖苷酶抑制剂，该抑制剂具有 GM1 神经节苷脂沉积症的药理伴侣特性

期刊:Molecules
影响因子:4.2
doi:10.3390/molecules27134008
Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona
神经
发表日期：2022
文献求助 收藏

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C

荧光原位染色和流式细胞术作为唾液酸沉积症、GM1神经节苷脂沉积症和尼曼-匹克C型病的新型预诊断检测方法

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines10081962
Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia
细胞生物学
FCM
IF
发表日期：2022
文献求助 收藏

Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant

病例报告：HFE基因H63D变异纯合子新生儿出现严重胆汁淤积，对类固醇治疗反应良好

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2022.930775
Filippi, Luca; Tamagnini, Sara; Lorenzoni, Francesca; Caciotti, Anna; Morrone, Amelia; Scaramuzzo, Rosa
3D/类器官
发表日期：2022
文献求助 收藏

SARS-CoV-2 infection in a patient with propionic acidemia

丙酸血症患者合并SARS-CoV-2感染

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01563-w
Caciotti, Anna; Procopio, Elena; Pochiero, Francesca; Falliano, Silvia; Indolfi, Giuseppe; Donati, Maria Alice; Ferri, Lorenzo; Guerrini, Renzo; Morrone, Amelia
炎症/感染
SARS-CoV-2
发表日期：2020
文献求助 收藏

High frequency of biotinidase deficiency in Italian population identified by newborn screening

新生儿筛查发现意大利人群中生物素酶缺乏症的发生率很高

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2020.100689
Funghini, Silvia; Tonin, Rodolfo; Malvagia, Sabrina; Caciotti, Anna; Donati, Maria Alice; Morrone, Amelia; la Marca, Giancarlo
发表日期：2020
文献求助 收藏

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer

由于新的 Gly-Gly 突变导致外显子剪接增强子的丢失，导致戈谢病中的进行性肌阵挛性癫痫

期刊:Journal of Neurology
影响因子:4.8
doi:10.1007/s00415-018-9084-4
Rodolfo Tonin, Serena Catarzi, Anna Caciotti, Elena Procopio, Carla Marini, Renzo Guerrini, Amelia Morrone
神经
癫痫
发表日期：2019
文献求助 收藏

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

莫尔基奥病是由GALNS基因深内含子突变导致的错误剪接引起的。

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-018-0694-6
Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia
发表日期：2018
文献求助 收藏