BARONE, RITA MARIA ELISA

BARONE, RITA MARIA ELISA  

MEDICINA CLINICA E SPERIMENTALE  

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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. file da validare
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. file da validare
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. file da validare
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. file da validare
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. file da validare
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 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 MARIA ELISA; 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
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
Alterazioni cerebellari nelle malattie metaboliche. 1-gen-2013 Fiumara, Agata; del Campo, G; Trigilia, C; Barone, RITA MARIA ELISA; Sorge, G. file da validare
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 1-gen-2017 Giordano, Daniela; Pino, Carmelo; Kavasidis, Isaak; Spampinato, Concetto; Di Pietro, Massimo; Rizzo, Renata; Scuderi, Anna; Barone, Rita
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 1-gen-2016 Barone, RITA MARIA ELISA; Vecchio, V; Zavattieri, A; Padalino, S; Nicolosi, A; Rizzo, Renata file da validare
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 1-gen-2014 Leonardi, A. C.; Cocuzza, M. D.; Moriella, F; La Rosa, A; Barone, RITA MARIA ELISA; Rizzo, Renata file da validare