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R

Rita Barone

university of catania

47H-index
326Paper Count
8.5KCitation Count
Published Papers 97
Publication Date
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IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives
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
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A splice-altering intronic variant in two multiplex families refines COG4-related congenital disorder of glycosylation
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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Electrocardiographic findings in children and adolescents treated with antipsychotics: a cohort study
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
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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
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.
errPediatric Neurology
IF2.1
err2025-10-13
err0
PREAI
errA. Prato; R. Barone; M.C. Milana; L. Cirnigliaro; D. Martino; R. Rizzo
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errSave
Quantifying Morbidity Risk Attributed to Red-Cell Transfusion Volume in Optimally Transfused Patients With β-Thalassemia
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
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Greenness exposure and Autism Spectrum Disorder risk: first Italian results of a case-control study
errEUROPEAN JOURNAL OF PUBLIC HEALTH
IF3.9
err2025-10-01
err0
errOAAI
errFiore, M.; Filippini, T.; Pellegrino, E.; Ferrante, M.; Barone, R.; Rizzo, R.
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Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG
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
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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Impact of lifetime anaemia and iron control on outcomes in β-thalassaemia: Data from the longitudinal de-LIGHT study
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
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 supplementation
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-CDG
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
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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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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
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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
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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
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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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Research Directions

No research directions
Co-authors
Cooperation Journals
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Frederic D. Bushman
H-index: 139 · Papers: 781
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William B. Dobyns
H-index: 127 · Papers: 600
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H-index: 116 · Papers: 2.1K
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