BARONE, RITA MARIA ELISA
BARONE, RITA MARIA ELISA
MEDICINA CLINICA E SPERIMENTALE
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions
2003-01-01 Malaguarnera, Lucia; Simpore, J; Prodi, Da; Angius, A; Sassu, A; Persico, I; Barone, RITA MARIA ELISA; Musumeci, S.
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
2015-01-01 Barone, RITA MARIA ELISA; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlina, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, G; Jaeken, J; Di Rocco, M; Garozzo, Domenico; Fiumara, Agata
A new inborn error of glycosylation due to DPM2 deficiency
file da validare2011-01-01 Vleugels, W; Race, V; Bammens, R; Keldermans, L; Barone, RITA MARIA ELISA; Folquier, F; Matthijs, G.
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg)
2020-01-01 Casetta, B.; Malvagia, S.; Funghini, S.; Martinelli, D.; Dionisi-Vici, C.; Barone, R.; Fiumara, A.; Donati, M. A.; Guerrini, R.; La Marca, G.
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit
2004-01-01 Annesi, G; Sofia, Vito; Gambardella, A; Candiano, Ic; Spadafora, P; Annesi, F; Cutuli, N; DE MARCO, Ev; Civitelli, D; Carrideo, S; Tarantino, P; Barone, RITA MARIA ELISA; Zappia, Mario; Quattrone, A.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype
2021-01-01 Nicotera, A. G.; Spoto, G.; Cali, F.; Romeo, G.; Musumeci, A.; Vinci, M.; Fiumara, A.; Barone, R.; Di Rosa, G.; Musumeci, S. A.
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19
2022-01-01 Prato, A.; Maugeri, N.; Chiarotti, F.; Morcaldi, L.; Vicario, C. M.; Barone, R.; Rizzo, R.
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
2018-01-01 Barone, Rita; Alaimo, Salvatore; Messina, Marianna; Pulvirenti, Alfredo; Bastin, Jean; MIMIC-Autism, Group; Ferro, Alfredo; Frye, Richard E; Rizzo, Renata; Russo, Giovanna; Fiumara, Agata
A survey on Italian Patients with PMM2-CDG
file da validare2013-01-01 Barone, RITA MARIA ELISA; Carrozzi, M; Cosentini, D; Dionisi Vici, C; Di Rocco, M; Garozzo, D; Lilliu, F; Spada, M; Sturiale, L; Fiumara, Agata
Aberrant Sialylation in a Patient with a HNF1? Variant and Liver Adenomatosis
2020-01-01 Sturiale, L.; Nassogne, M. -C.; Palmigiano, A.; Messina, A.; Speciale, I.; Artuso, R.; Giglio, S. R.; Bertino, G.; Revencu, N.; Steph('e)nne, X.; de Castro, C.; Matthijs, G.; Barone, R.; Jaeken, J.; Garozzo, D.
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis
2021-01-01 Sturiale, Luisa; cile Nassogne, Marie-Ce´; Palmigiano, Angelo; Messina, Angela; Speciale, Immacolata; Artuso, Rosangela; Bertino, Gaetano; Revencu, Nicole; Stephenne, Xavier; De Castro, Cristina; Matthijs, Gert; Barone, Rita; Jaeken, Jaak; Domenico Garozzo, And
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
2021-01-01 Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo F, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Sue; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study
2019-01-01 Cantone, M.; Lanza, G.; Le Pira, A.; Barone, R.; Pennisi, G.; Bella, R.; Pennisi, M.; Fiumara, A.
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders
file da validare2006-01-01 L., Sturiale; Barone, RITA MARIA ELISA; Garozzo, Domenico
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders.
file da validare2005-01-01 L., Sturiale; Barone, RITA MARIA ELISA; D., Garozzo
Age and sex prevalence estimate of Joubert syndrome in Italy
2020-01-01 Nuovo, S; Bacigalupo, I; Ginevrino, M; Battini, R; Bertini, E; Borgatti, R; Casella, A; Micalizzi, A; Nardella, M; Romaniello, R; Serpieri, V; Zanni, G; Valente, Em; Vanacore, N; Barone, Rita
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016-01-01 Ng, B. G; Shiryaev, S. A; Rymen, D; Eklund, E. A; Raymond, K; Kircher, M; Abdenur, J. E; Alehan, F; Midro, A. T; Bamshad, M. J; Barone, R; Berry, G. T.; Brumbaugh, J. E; Buckingham, K. J; Clarkson, K; Cole, F. S; O'Connor, S; Cooper, G. M; Van Coster, R; Demmer, L. A; Diogo, L; Fay, A. J; Ficicioglu, C; Fiumara, A; Gahl, W. A; Ganetzky, R; Goel, H; Harshman, L. A; He, M; Jaeken, J; James, P. M; Katz, D; Keldermans, L; Kibaek, M; Kornberg, A. J; Lachlan, K; Lam, C; Yaplito-Lee, J; Nickerson, D. A; Peters, H. L; Race, V; Régal, L; Rush, J. S; Rutledge, S. L; Shendure, J; Souche, E; Sparks, S. E; Trapane, P; Sanchez-Valle, A; Vilain, E; Vøllo, A; Waechter, C. J; Wang, R. Y; Wolfe, L. A; Wong, D. A; Wood, T; Yang, A. C; Matthijs, G; Freeze, H. H.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect
2019-01-01 Sturiale, Luisa; Bianca, Sebastiano; Garozzo, Domenico; Terracciano, Alessandra; Agolini, Emanuele; Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Barone, Chiara; Novelli, Antonio; Fiumara, Agata; Jaeken, Jaak; Barone, Rita
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines
2022-01-01 Albokhari, Daniah; Ng, Bobby G.; Guberinic, Alis; Daniel, Earnest James Paul; Engelhardt, Nicole M.; Barone, Rita; Fiumara, Agata; Garavelli, Livia; Trimarchi, Gabriele; Wolfe, Lynne; Raymond, Kimiyo M.; Morava, Eva; He, Miao; Freeze, Hudson H.; Lam, Christina; Edmondson, Andrew C.
Alterazioni cerebellari nelle malattie metaboliche.
file da validare2013-01-01 Fiumara, Agata; del Campo, G; Trigilia, C; Barone, RITA MARIA ELISA; Sorge, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions | 1-gen-2003 | Malaguarnera, Lucia; Simpore, J; Prodi, Da; Angius, A; Sassu, A; Persico, I; Barone, RITA MARIA ELISA; Musumeci, S. | |
| A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation | 1-gen-2015 | Barone, RITA MARIA ELISA; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlina, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, G; Jaeken, J; Di Rocco, M; Garozzo, Domenico; Fiumara, Agata | |
| A new inborn error of glycosylation due to DPM2 deficiency | 1-gen-2011 | Vleugels, W; Race, V; Bammens, R; Keldermans, L; Barone, RITA MARIA ELISA; Folquier, F; Matthijs, G. | file da validare |
| A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) | 1-gen-2020 | Casetta, B.; Malvagia, S.; Funghini, S.; Martinelli, D.; Dionisi-Vici, C.; Barone, R.; Fiumara, A.; Donati, M. A.; Guerrini, R.; La Marca, G. | |
| A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit | 1-gen-2004 | Annesi, G; Sofia, Vito; Gambardella, A; Candiano, Ic; Spadafora, P; Annesi, F; Cutuli, N; DE MARCO, Ev; Civitelli, D; Carrideo, S; Tarantino, P; Barone, RITA MARIA ELISA; Zappia, Mario; Quattrone, A. | |
| A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype | 1-gen-2021 | Nicotera, A. G.; Spoto, G.; Cali, F.; Romeo, G.; Musumeci, A.; Vinci, M.; Fiumara, A.; Barone, R.; Di Rosa, G.; Musumeci, S. A. | |
| A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19 | 1-gen-2022 | Prato, A.; Maugeri, N.; Chiarotti, F.; Morcaldi, L.; Vicario, C. M.; Barone, R.; Rizzo, R. | |
| A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses | 1-gen-2018 | Barone, Rita; Alaimo, Salvatore; Messina, Marianna; Pulvirenti, Alfredo; Bastin, Jean; MIMIC-Autism, Group; Ferro, Alfredo; Frye, Richard E; Rizzo, Renata; Russo, Giovanna; Fiumara, Agata | |
| A survey on Italian Patients with PMM2-CDG | 1-gen-2013 | Barone, RITA MARIA ELISA; Carrozzi, M; Cosentini, D; Dionisi Vici, C; Di Rocco, M; Garozzo, D; Lilliu, F; Spada, M; Sturiale, L; Fiumara, Agata | file da validare |
| Aberrant Sialylation in a Patient with a HNF1? Variant and Liver Adenomatosis | 1-gen-2020 | Sturiale, L.; Nassogne, M. -C.; Palmigiano, A.; Messina, A.; Speciale, I.; Artuso, R.; Giglio, S. R.; Bertino, G.; Revencu, N.; Steph('e)nne, X.; de Castro, C.; Matthijs, G.; Barone, R.; Jaeken, J.; Garozzo, D. | |
| Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis | 1-gen-2021 | Sturiale, Luisa; cile Nassogne, Marie-Ce´; Palmigiano, Angelo; Messina, Angela; Speciale, Immacolata; Artuso, Rosangela; Bertino, Gaetano; Revencu, Nicole; Stephenne, Xavier; De Castro, Cristina; Matthijs, Gert; Barone, Rita; Jaeken, Jaak; Domenico Garozzo, And | |
| Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings | 1-gen-2021 | Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo F, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Sue; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J | |
| Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study | 1-gen-2019 | Cantone, M.; Lanza, G.; Le Pira, A.; Barone, R.; Pennisi, G.; Bella, R.; Pennisi, M.; Fiumara, A. | |
| Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders | 1-gen-2006 | L., Sturiale; Barone, RITA MARIA ELISA; Garozzo, Domenico | file da validare |
| Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. | 1-gen-2005 | L., Sturiale; Barone, RITA MARIA ELISA; D., Garozzo | file da validare |
| Age and sex prevalence estimate of Joubert syndrome in Italy | 1-gen-2020 | Nuovo, S; Bacigalupo, I; Ginevrino, M; Battini, R; Bertini, E; Borgatti, R; Casella, A; Micalizzi, A; Nardella, M; Romaniello, R; Serpieri, V; Zanni, G; Valente, Em; Vanacore, N; Barone, Rita | |
| ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. | 1-gen-2016 | Ng, B. G; Shiryaev, S. A; Rymen, D; Eklund, E. A; Raymond, K; Kircher, M; Abdenur, J. E; Alehan, F; Midro, A. T; Bamshad, M. J; Barone, R; Berry, G. T.; Brumbaugh, J. E; Buckingham, K. J; Clarkson, K; Cole, F. S; O'Connor, S; Cooper, G. M; Van Coster, R; Demmer, L. A; Diogo, L; Fay, A. J; Ficicioglu, C; Fiumara, A; Gahl, W. A; Ganetzky, R; Goel, H; Harshman, L. A; He, M; Jaeken, J; James, P. M; Katz, D; Keldermans, L; Kibaek, M; Kornberg, A. J; Lachlan, K; Lam, C; Yaplito-Lee, J; Nickerson, D. A; Peters, H. L; Race, V; Régal, L; Rush, J. S; Rutledge, S. L; Shendure, J; Souche, E; Sparks, S. E; Trapane, P; Sanchez-Valle, A; Vilain, E; Vøllo, A; Waechter, C. J; Wang, R. Y; Wolfe, L. A; Wong, D. A; Wood, T; Yang, A. C; Matthijs, G; Freeze, H. H. | |
| ALG12-CDG: novel glycophenotype insights endorse the molecular defect | 1-gen-2019 | Sturiale, Luisa; Bianca, Sebastiano; Garozzo, Domenico; Terracciano, Alessandra; Agolini, Emanuele; Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Barone, Chiara; Novelli, Antonio; Fiumara, Agata; Jaeken, Jaak; Barone, Rita | |
| ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines | 1-gen-2022 | Albokhari, Daniah; Ng, Bobby G.; Guberinic, Alis; Daniel, Earnest James Paul; Engelhardt, Nicole M.; Barone, Rita; Fiumara, Agata; Garavelli, Livia; Trimarchi, Gabriele; Wolfe, Lynne; Raymond, Kimiyo M.; Morava, Eva; He, Miao; Freeze, Hudson H.; Lam, Christina; Edmondson, Andrew C. | |
| Alterazioni cerebellari nelle malattie metaboliche. | 1-gen-2013 | Fiumara, Agata; del Campo, G; Trigilia, C; Barone, RITA MARIA ELISA; Sorge, G. | file da validare |