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R

Rita Barone

university of catania

47H指数
326论文数
8.5K被引数
收录论文 97
发表时间
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IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives环14综合征患者IgG糖基化分析揭示了新的致病机制和治疗前景
errBiomolecules
IF4.8
err2026-05-22
err0
errOAAI
errAngela Messina; Angelo Palmigiano; Donata Agata Romeo; Luisa Sturiale; Enrico Parano; Marco Crimi; Annunziata Carrese Cirillo; Alessandro Vaisfeld; Rita Barone; Domenico Garozzo
err分享
err收藏
A splice-altering intronic variant in two multiplex families refines COG4-related congenital disorder of glycosylation在两个多基因家族中发现的一个可改变剪接的内含子变异，可明确COG4相关的先天性糖基化障碍
errMolecular Genetics and Metabolism
IF3.5
err2026-05-22
err0
PREAI
errLucia Micale; Luisa Sturiale; Federica Russo; Ester Di Muro; Grazia Nardella; Riccardo Pracella; Sonia Lomuscio; Silvia Morlino; Mario Benvenuto; Angela Messina; Angelo Palmigiano; Massimo Carella; Giuseppe d'Orsi; Pietro Palumbo; Orazio Palumbo; Rita Barone; Marco Castori
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err收藏
Electrocardiographic findings in children and adolescents treated with antipsychotics: a cohort study抗精神病药物治疗儿童和青少年的心电图表现：一项队列研究
errFrontiers in Psychiatry
IF3.2
err2026-04-20
err0
errOAAI
errFP Fabio Pettinato; AZ Alice Zanini; AP Adriana Prato; FF Federica Fiore; NM Nicoletta Maugeri; RB Rita Barone; RR Renata Rizzo
err分享
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Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation长期安全性结局及患者对居家静脉酶替代疗法（ERT）的偏好： Pompe病和Mucopolysaccharidosis Type I（MPS-I）两年观察的最终结果
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-22
err0
errOAAI
errAntonio Toscano; Olimpia Musumeci; Michele Sacchini; Sabrina Ravaglia; Gabriele Siciliano; Agata Fiumara; Elena Verrecchia; Rita Fischetto; Grazia Crescimanno; Roberta Taurisano; Annalisa Sechi; Serena Gasperini; Vittoria Cianci; Lorenzo Maggi; Filippo Brighina; Rita Barone; Annalia Cianflone; Marta Balzarini; Rossella Parini; Maurizio Scarpa
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Application of Delphi method-based definition of treatment-refractory Tourette disorder in a large Italian clinical cohort of children and adolescents.基于德尔菲法对治疗难治性图雷特障碍的定义在大规模意大利儿童和青少年临床队列中的应用。
errPediatric Neurology
IF2.1
err2025-10-13
err0
PREAI
errA. Prato; R. Barone; M.C. Milana; L. Cirnigliaro; D. Martino; R. Rizzo
err分享
err收藏
Quantifying Morbidity Risk Attributed to Red-Cell Transfusion Volume in Optimally Transfused Patients With β-Thalassemia量化最优输血患者中红细胞输注量所致的发病风险
errAmerican Journal of Hematology
IF9.9
err2025-10-03
err0
errOAAI
errKhaled M. Musallam; Angela Vitrano; Alessandro Inzerillo; Rosario Di Maggio; Rita Barone; Antonino Giangreco; Maria Concetta Renda; Emanuela Fecarotta; Antonio Troia; Antonino Giambona; Giovan Battista Ruffo; Efthymia Vlachaki; Theodora M. Venou; Paolo Ricchi; Brunella Ziello; Marilena Serra; Elena Colizzi; Filomena Longo; Martina Culcasi; Aurelio Maggio
err分享
err收藏
Greenness exposure and Autism Spectrum Disorder risk: first Italian results of a case-control study绿地暴露与自闭症谱系障碍风险：一项病例对照研究的首批意大利结果
errEUROPEAN JOURNAL OF PUBLIC HEALTH
IF3.9
err2025-10-01
err0
errOAAI
errFiore, M.; Filippini, T.; Pellegrino, E.; Ferrante, M.; Barone, R.; Rizzo, R.
err分享
err收藏
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG探索PMM2-CDG中的继发性生物素酶缺乏与生物素补充治疗
errNEUROPEDIATRICS
IF1.2
err2025-10-01
err0
PREAI
errHimmelreich, Nastassja; Garbade, Sven F.; Okun, Jurgen G.; Hengst, Simone; Geiger, Virginia; Barone, Rita; Wortmann, Saskia B.; Thiel, Christian
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Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights探索受ADHD影响的儿童队列中的拷贝数变异：临床调查与转化洞见
errGenes 2025, Vol. 16, Page 1020
IF2.8
err2025-08-29
err0
errOAAI
errFederica Mirabella; Valentina Finocchiaro; Mariagrazia Figura; Ornella Galesi; Maurizio Elia; Serafino Buono; Rita Barone; Renata Rizzo
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err收藏
Impact of lifetime anaemia and iron control on outcomes in β-thalassaemia: Data from the longitudinal de-LIGHT studyβ-地中海贫血中贫血和铁控制对预后的影响：纵向de-LIGHT研究的数据
errBritish Journal of Haematology
IF3.8
err2025-07-31
err0
PREAI
errKhaled M. Musallam; Angela Vitrano; Alessandro Inzerillo; Rosario Di Maggio; Rita Barone; Antonino Giangreco; Maria Concetta Renda; Emanuela Fecarotta; Antonio Troia; Antonino Giambona; Giovan Battista Ruffo; Efthymia Vlachaki; Theodora M. Venou; Paolo Ricchi; Brunella Ziello; Marilena Serra; Elena Colizzi; Filomena Longo; Martina Culcasi; Aurelio Maggio
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Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes磷酸甘露糖变位酶2-先天性糖基化障碍：探索N-糖基化对内分泌轴的作用
errFrontiers in Endocrinology
IF4.6
err2025-07-23
err0
errOAAI
errGiulia Del Medico; Lorenzo Ferri; Elena Procopio; Giosuè Annibalini; Elena Barbieri; Rita Barone; Renzo Guerrini; Amelia Morrone; Stefano Stagi
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Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationSLC35A2-CDG中糖鞘脂合成受损，且可通过添加半乳糖得到改善。
errCellular and Molecular Life Sciences
IF6.2
err2025-06-27
err0
errOAAI
errAndrea Jáñez Pedrayes; Sam De Craemer; Jakub Idkowiak; Dries Verdegem; Christian Thiel; Rita Barone; Mercedes Serrano; Tomáš Honzík; Eva Morava; Pieter Vermeersch; François Foulquier; Willy Morelle; Johannes V. Swinnen; Daisy Rymen; David Cassiman; Bart Ghesquière; Peter Witters
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Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDGPMM2-CDG患者外周血单核细胞的靶向代谢组学评估
errSCIENTIFIC REPORTS
IF3.9
err2025-05-07
err0
errOAAI
errMangione, Renata; Cirnigliaro, Lara; Saab, Miriam Wissam; Pettinato, Fabio; Barbato, Alessandro; Distefano, Alfio; La Spina, Enrico; Lazzarino, Giuseppe; Li Volti, Giovanni; Longhitano, Lucia; Tibullo, Daniele; Pittala, Alessandra; Giallongo, Cesarina; Di Pietro, Valentina; Tabbi, Giovanni; Longo, Salvatore Antonio; Graziani, Andrea; Tavazzi, Barbara; Amorini, Angela Maria; Lazzarino, Giacomo; Barone, Rita
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Fluorescence-Based Multiplex Western Blot to Simultaneously Detect the Insulin-Like Growth Factor-1 (IGF-1) Isoforms
errELECTROPHORESIS
IF2.5
err2025-03-01
err0
errOAAI
errBocconcelli, Matteo; Fanelli, Fabiana; Saltarelli, Roberta; De Santi, Mauro; Barone, Rita; Barbieri, Elena; Annibalini, Giosue
err分享
err收藏
Trappsol® CycloTM (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph
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Gangliosidoses: Understanding disease evolution in GM1 and GM2
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGiugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Hahn, Andreas; Patterson, Marc; Bourchany, Aurelie; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez
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err收藏
Application of a natural history study on an investigational drug clinical development
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGiugliani, Roberto; Valle, Daniel A. D.; Heron, Benedicte; Harmatz, Paul; Hahn, Andreas; Horovitz, Dafne D. G.; Patterson, Marc; Bourchany, Aurelie; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez
err分享
err收藏
Trappsol®CycloTM and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Perez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph
err分享
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Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture
errJOURNAL OF NEUROENGINEERING AND REHABILITATION
IF5.2
err2024-12-23
err0
errOAAI
errPettinato, Fabio; Valle, Maria Stella; Cioni, Matteo; Cirnigliaro, Lara; Rizzo, Renata; Barone, Rita; Bosco, Gianfranco; Casabona, Antonino
err分享
err收藏
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
errHUMAN MUTATION
IF3.7
err2024-10-03
err0
errOAAI
errPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
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研究方向

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