BARONE, RITA MARIA ELISA
BARONE, RITA MARIA ELISA
COG6-CDG: Novel variants and novel malformation
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
2021 Sturiale L.; Nassogne M.C.; 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)
2021 Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, RITA MARIA ELISA
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
2021 Bonaventura, Eleonora; Barone, Rita; Sturiale, Luisa; Pasquariello, Rosa; Alessandri, Maria Grazia; Pinto, Anna Maria; Renieri, Alessandra; Panteghini, Celeste; Garavaglia, Barbara; Cioni, Giovanni; Battini, Roberta
ALG12-CDG: novel glycophenotype insights endorse the molecular defect
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
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
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
2019 F. Esposito; A. Palmigiano; A. Messina; R. Barone; L. Sturiale; D. Garozzo
Hyperkinetic movement disorders in congenital disorders of glycosylation
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
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
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
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
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
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
2008 L. Sturiale; R. Barone; A. Messina; A. Palmigiano; D. Garozzo
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential IgY immunoseparation and MALDI TOF MS
2008 L. Sturiale; R. Barone; A. Messina; A. Palmigiano; D. Garozzo
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)
2007 Barone, R; Sturiale, L; Fiumara, A; Uziel, G; Garozzo, D; Jaeken, J
DIFFERENCES IN DISEASE SEVERITY REFLECT DIVERSITY OF GLYCOPROTEOME IN TWO SIBS WITH CDG-Ia
2007 Barone, R; Sturiale, L; Sofia, V; Ignoto, A; Fiumara, A; Garozzo, D; Zappia, M
DIFFERENCES IN SEVERITY OF CLINICAL PHENOTYPE REFLECT DIVERSITY OF GLYCOPROTEOME IN TWO SIBS WITH CDG-Ia
2007 Barone, R; Sturiale, L; Sofia, V; Messina, A; Palmigiano, A; Fiumara, A; Zappia, M; Garozzo, D
Glycoproteomics of congenital disorders of glycosylation and secondary glycosylation disorders
2007 Barone, R; Sturiale, L; Messina, A; Palmigiano, A; Garozzo, D
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 M.C.; 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, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, RITA MARIA ELISA | |
| Clinical, molecular and glycophenotype insights in SLC39A8-CDG | 1-gen-2021 | Bonaventura, Eleonora; Barone, Rita; Sturiale, Luisa; Pasquariello, Rosa; Alessandri, Maria Grazia; Pinto, Anna Maria; Renieri, Alessandra; Panteghini, Celeste; Garavaglia, Barbara; Cioni, Giovanni; Battini, Roberta | |
| 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 | |
| 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 | |
| Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) | 1-gen-2007 | Barone, R; Sturiale, L; Fiumara, A; Uziel, G; Garozzo, D; Jaeken, J | |
| DIFFERENCES IN DISEASE SEVERITY REFLECT DIVERSITY OF GLYCOPROTEOME IN TWO SIBS WITH CDG-Ia | 1-gen-2007 | Barone, R; Sturiale, L; Sofia, V; Ignoto, A; Fiumara, A; Garozzo, D; Zappia, M | |
| DIFFERENCES IN SEVERITY OF CLINICAL PHENOTYPE REFLECT DIVERSITY OF GLYCOPROTEOME IN TWO SIBS WITH CDG-Ia | 1-gen-2007 | Barone, R; Sturiale, L; Sofia, V; Messina, A; Palmigiano, A; Fiumara, A; Zappia, M; Garozzo, D | |
| Glycoproteomics of congenital disorders of glycosylation and secondary glycosylation disorders | 1-gen-2007 | Barone, R; Sturiale, L; Messina, A; Palmigiano, A; Garozzo, D |