BARONE, RITA MARIA ELISA

BARONE, RITA MARIA ELISA  

Istituto per i Polimeri, Compositi e Biomateriali - IPCB  

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Titolo Data di pubblicazione Autore(i) File
CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer’s Disease 1-gen-2024 Messina, Angela; Barone, Rita; Sturiale, L.; Zappia, Mario; Palmigiano, Angelo; Garozzo, Domenico
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA 1-gen-2024 Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 1-gen-2023 Fiumara, A; Sapuppo, A; Ferri, L; Arena, A; Prato, A; Garozzo, D; Sturiale, L; Morrone, A; Barone, R
COG6-CDG: Novel variants and novel malformation 1-gen-2022 Cirnigliaro, L; Bianchi, P; Sturiale, L; Garozzo, D; Mangili, G; Keldermans, L; Rizzo, R; Matthijs, G; Fiumara, A; Jaeken, J; Barone, R
Aberrant sialylation in a patient with a HNF1 alpha variant and liver adenomatosis 1-gen-2021 Sturiale, L; Nassogne, Mc; Palmigiano, A; Messina, A; Speciale, I; Artuso, R; Bertino, G; Revencu, N; Stephenne, X; De Castro, C; Matthijs, G; Barone, R; Jaeken, J; Garozzo, D
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 1-gen-2021 Pettinato, F; Mostile, G; Battini, R; Martinelli, D; Madeo, A; Biamino, E; Frattini, D; Garozzo, D; Gasperini, S; Parini, R; Sirchia, F; Sortino, G; Sturiale, L; Matthijs, G; Morrone, A; Di Rocco, M; Rizzo, R; Jaeken, J; Fiumara, A; Barone, R
Clinical, molecular and glycophenotype insights in SLC39A8-CDG 1-gen-2021 Bonaventura, E; Barone, R; Sturiale, L; Pasquariello, R; Alessandri, M G; Pinto, A M; Renieri, A; Panteghini, C; Garavaglia, B; Cioni, G; Battini, R.
N-Glycomics of Human Erythrocytes 1-gen-2021 Bua, Rosaria Ornella; Messina, Angela; Sturiale, Luisella; Barone, Rita; Garozzo, Domenico; Palmigiano, Angelo
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases 1-gen-2020 Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Fiumara, Agata; Bordugo, Andrea; Barone, Rita; Sturiale, L.; Jaeken, Jaak; Garozzo, Domenico
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 1-gen-2019 Sturiale L.; Bianca S.; Garozzo D.; Terracciano A.; Agolini E.; Messina A.; Palmigiano A.; Esposito F.; Barone C.; Novelli A.; Fiumara A.; Jaeken J.; Barone R.
Combined mass spectrometry methods for serum N-glycoprotein profiling enhance the awareness of the molecular patho-mechanism in ALG12-CDG 1-gen-2019 Sturiale, L; Bianca, S; Terracciano, A; Agolini, E; Messina, A; Palmigiano, A; Esposito, F; Barone, C; Novelli, A; Fiumara, A; Garozzo, D; Jaeken, J; Barone, R
CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases 1-gen-2019 Messina, A; Palmigiano, A; Bua, Ro; Romeo, Da; Barone, R; Sturiale, L; Zappia, M; Garozzo, D
HILIC-MS based glycomics in the diagnosis of Congenital Disorders of Glycosylation 1-gen-2019 F. Esposito; A. Palmigiano; A. Messina; R. Barone; L. Sturiale; D. Garozzo
Hyperkinetic movement disorders in congenital disorders of glycosylation 1-gen-2019 Mostile, G; Barone, R; Nicoletti, A; Rizzo, R; Martinelli, D; Sturiale, L; Fiumara, A; Jankovic, J; Zappia, M
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals 1-gen-2019 Ng Bobby, G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino Carlos, A; Barone, RITA MARIA ELISA; Botto Lorenzo, D; Burton Jennifer, E; Carlston, Colleen; Chung Brian, Honyin; Cohen Julie, S; Coman, David; Dipple Katrina, M; Dorrani, Naghmeh; Dobyns William, B; Elias Abdallah, F; Epstein, Leon; Gahl William, A; Garozzo, Domenico; Hammer Trine, Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson George, E; Hunter Jesse, M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco Charles, Marques; Mak Christopher, C Y; Mcknight, Dianalee; Mendelsohn Bryce, A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson Stanley, F; Olczak, Mariusz; Palmer Christina, G S; Partikian, Arthur; Patterson Marc, C; Pierson Tyler, M; Quinonez Shane, C; Regan Brigid, M; Ross, M Elizabeth; Guillen Sacoto Maria, J; Scaglia, Fernando; Scheffer Ingrid, E; Segal, Devorah; Singhal Nilika, Shah; Striano, Pasquale; Sturiale, Luisa; Symonds Joseph, D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe Lynne, A; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy Sharon, F; Rosenfeld Jill, A; Edmondson Andrew, C; Grunewald, Stephanie; Freeze Hudson, H
The cerebrospinal fluid (CSF) N-glycome as a novel biomarker of Parkinson's disease. A mass spectrometry-based CSF n-glycosylation study of patients affected by Parkinson's disease 1-gen-2019 A. Palmigiano; A. Messina; F. Esposito; R. Barone; G. Mostile; A. Nicoletti; L. Sturiale; D.A. Romeo; D. Garozzo; M. Zappia
CSF N-Glycomics Using MALDI MS Techniques in Alzheimer's Disease 1-gen-2018 Palmigiano, Angelo; Messina, Angela; Bua, Rosaria Ornella; Barone, RITA MARIA ELISA; Sturiale, Luisa; Zappia, Mario; Garozzo, Domenico
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG 1-gen-2017 Palmigiano, A; Bua, R O; Barone, R; Rymen, D; Regal, L; Deconinck, N; Dionisivici, C; Fung, C W; Garozzo, D; Jaeken, J; Sturiale, L
Secondary disorders of glycosylation in inborn errors of fructose metabolism 1-gen-2009 Quintana E; Sturiale L; Montero R; Andrade F; Fernandez C; Couce ML; Barone R; AldamizEchevarria L; Ribes A; Artuch R; Briones P
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential IgY immunoseparation and MALDI TOF MS 1-gen-2008 L. Sturiale; R. Barone; A. Messina; A. Palmigiano; D. Garozzo