DE FILIPPI, PAOLA
DE FILIPPI, PAOLA
DIPARTIMENTO DI MEDICINA MOLECOLARE
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
2014-01-01 Parenti, G; Fecarotta, S; la Marca, G; Rossi, B; Ascione, S; Donati, Ma; Morandi, Lo; Ravaglia, SABRINA MARIA; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; DE FILIPPI, Paola; Danesino, Cesare; Della Casa, R; Romano, A; Mollica, C; Rosa, M; Agovino, T; Nusco, E; Porto, C; Andria, G.
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.
2004-01-01 Boxall, S; Mccormick, J; Beverley, P; Strobel, S; DE FILIPPI, Paola; Dawes, R; Klersy, C; Clementi, Rita; DE JULI, E; Ferster, A; Wallace, D; Aricò, M; Danesino, Cesare; Tchilian, E.
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up
2022-01-01 Ravaglia, Sabrina; de Giuseppe, Rachele; Carlucci, Annalisa; Jehne, Susan; Crescimanno, Grazia; Ahmad, Lara; Paoletti, Matteo; Clemente, Gabriele; Pichiecchio, Anna; Bazzano, Rosella; Cirio, Serena; Valente, Enza Maria; Danesino, Cesare; De Filippi, Paola; Tartara, Alice; Cena, Hellas
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?
2012-01-01 Ravaglia, SABRINA MARIA; DE FILIPPI, Paola; Rossi, Miriam; Ponzio, M; Saeidi Garaghani, K; Poloni, Gu; Bini, P; Danesino, Cesare; Pichiecchio, Anna
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis.
2010-01-01 Ravaglia, SABRINA MARIA; Danesino, Cesare; Moglia, Arrigo; Costa, Alfredo; Cena, Hellas; Maccarini, Laura; Carlucci, A; Pichiecchio, Anna; Bini, Paola; DE FILIPPI, Paola; Rossi, Miriam
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
2015-01-01 Montagnese, Federica; Barca, E.; Musumeci, O.; Mondello, S.; Migliorato, A.; Ciranni, A.; Rodolico, C.; DE FILIPPI, Paola; Danesino, Cesare; Toscano, Antonio
Deletion of PAX9 and oligodontia: a third family and review of the literature.
2008-01-01 Guala, A; Falco, V; Breedveld, G; DE FILIPPI, Paola; Danesino, Cesare
Dietary treatment in adult-onset type II glycogenosis.
2006-01-01 Ravaglia, SABRINA MARIA; Rossi, Miriam; Rossi, M.; DE FILIPPI, Paola; Minelli, Antonella; Moglia, Arrigo; Danesino, Cesare
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
2014-01-01 S., Cesaro; DE FILIPPI, Paola; A. D., Meglio; A., Leszl; S., Donska; A., Zaccaron; Cagioni, Claudia; R., Galavotti; Danesino, Cesare; F., Aprili; C., Cugno; G. t., Kronnie; M., Zecca; S., Bresolin
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
2023-01-01 De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M. G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E. M.; Danesino, C.
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance.
2007-01-01 Guala, Andrea; Carrera, P.; Pastore, G.; Somaschini, M.; Ancora, G.; Faldella, G.; DE FILIPPI, Paola; Ferrero, F.; Guarino, R.; Danesino, Cesare
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects.
2004-01-01 Maserati, E; Minelli, Antonella; Menna, G; Cecchini, Mp; Bernardo, Me; Rossi, G; DE FILIPPI, Paola; LO CURTO, Francesco; Danesino, Cesare; Locatelli, Franco; Paquali, F.
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE
2000-01-01 Minelli, Antonella; Maserati, E; Giudici, G; Tosi, S; Olivieri, Carla; Bonvini, L.; DE FILIPPI, Paola; Biondi, A.; LO CURTO, F.; Pasquali, F.; Danesino, Cesare
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family
2008-01-01 Mevio, E; Sbrocca, M; Mullace, M; Vettorello, M; Puppin, E; DE FILIPPI, Paola; Olivieri, Carla; Minelli, Antonella; Danesino, Cesare
Genotype-phenotype correlation in Pompe disease, a step forward.
2014-01-01 DE FILIPPI, Paola; Saeidi, K.; Ravaglia, SABRINA MARIA; Dardis, A.; Angelini, C.; Mongini, T.; Morandi, L.; Moggio, M.; Muzio, A. D.; Filosto, M.; Bembi, B.; Giannini, F.; Marrosu, G.; Rigoldi, M.; Tonin, P.; Servidei, S.; Siciliano, G.; Carlucci, A.; Scotti, Claudia; Comelli, MARIO ANGELO; Toscano, A.; Danesino, Cesare
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia
2007-01-01 Zecca, M.; Bergamaschi, G.; Kratz, C.; Bergstrer, E.; Danesino, Cesare; DE FILIPPI, Paola; Hasle, H.; Lisini, D.; Locatelli, Franco; Pession, A.; Sainati, L.; Stary', J.; Trebo, M.; VAN DEN HEUVEL EIBRINK, M.; Wojcik, D.; Niemeyer, C. M.
Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?
2021-01-01 Ravaglia, S.; Barbarito, N.; Malovini, A.; Cirio, S.; Pichiecchio, A.; De Filippi, P.; Danesino, C.; Carlucci, A.
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies
2017-01-01 Pichiecchio, A.; Sacco, S.; De Filippi, P.; Caverzasi, E.; Ravaglia, S.; Bastianello, S.; Danesino, C.
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group
2016-01-01 Bresolin, Silvia; DE FILIPPI, Paola; Vendemini, Francesca; D'Alia, Mirko; Zecca, Marco; Meyer, Lueder H.; Danesino, Cesare; Locatelli, Franco; Masetti, Riccardo; Basso, Giuseppe; te Kronnie, Geertruy
Ptosis as a feature of late-onset glycogenosis type II.
2007-01-01 Ravaglia, S.; Repetto, A.; DE FILIPPI, Paola; Danesino, Cesare
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. | 1-gen-2014 | Parenti, G; Fecarotta, S; la Marca, G; Rossi, B; Ascione, S; Donati, Ma; Morandi, Lo; Ravaglia, SABRINA MARIA; Pichiecchio, A; Ombrone, D; Sacchini, M; Pasanisi, Mb; DE FILIPPI, Paola; Danesino, Cesare; Della Casa, R; Romano, A; Mollica, C; Rosa, M; Agovino, T; Nusco, E; Porto, C; Andria, G. | |
| Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. | 1-gen-2004 | Boxall, S; Mccormick, J; Beverley, P; Strobel, S; DE FILIPPI, Paola; Dawes, R; Klersy, C; Clementi, Rita; DE JULI, E; Ferster, A; Wallace, D; Aricò, M; Danesino, Cesare; Tchilian, E. | |
| Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up | 1-gen-2022 | Ravaglia, Sabrina; de Giuseppe, Rachele; Carlucci, Annalisa; Jehne, Susan; Crescimanno, Grazia; Ahmad, Lara; Paoletti, Matteo; Clemente, Gabriele; Pichiecchio, Anna; Bazzano, Rosella; Cirio, Serena; Valente, Enza Maria; Danesino, Cesare; De Filippi, Paola; Tartara, Alice; Cena, Hellas | |
| Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis? | 1-gen-2012 | Ravaglia, SABRINA MARIA; DE FILIPPI, Paola; Rossi, Miriam; Ponzio, M; Saeidi Garaghani, K; Poloni, Gu; Bini, P; Danesino, Cesare; Pichiecchio, Anna | |
| Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. | 1-gen-2010 | Ravaglia, SABRINA MARIA; Danesino, Cesare; Moglia, Arrigo; Costa, Alfredo; Cena, Hellas; Maccarini, Laura; Carlucci, A; Pichiecchio, Anna; Bini, Paola; DE FILIPPI, Paola; Rossi, Miriam | |
| Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment | 1-gen-2015 | Montagnese, Federica; Barca, E.; Musumeci, O.; Mondello, S.; Migliorato, A.; Ciranni, A.; Rodolico, C.; DE FILIPPI, Paola; Danesino, Cesare; Toscano, Antonio | |
| Deletion of PAX9 and oligodontia: a third family and review of the literature. | 1-gen-2008 | Guala, A; Falco, V; Breedveld, G; DE FILIPPI, Paola; Danesino, Cesare | |
| Dietary treatment in adult-onset type II glycogenosis. | 1-gen-2006 | Ravaglia, SABRINA MARIA; Rossi, Miriam; Rossi, M.; DE FILIPPI, Paola; Minelli, Antonella; Moglia, Arrigo; Danesino, Cesare | |
| Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. | 1-gen-2014 | S., Cesaro; DE FILIPPI, Paola; A. D., Meglio; A., Leszl; S., Donska; A., Zaccaron; Cagioni, Claudia; R., Galavotti; Danesino, Cesare; F., Aprili; C., Cugno; G. t., Kronnie; M., Zecca; S., Bresolin | |
| Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) | 1-gen-2023 | De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M. G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E. M.; Danesino, C. | |
| Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. | 1-gen-2007 | Guala, Andrea; Carrera, P.; Pastore, G.; Somaschini, M.; Ancora, G.; Faldella, G.; DE FILIPPI, Paola; Ferrero, F.; Guarino, R.; Danesino, Cesare | |
| Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. | 1-gen-2004 | Maserati, E; Minelli, Antonella; Menna, G; Cecchini, Mp; Bernardo, Me; Rossi, G; DE FILIPPI, Paola; LO CURTO, Francesco; Danesino, Cesare; Locatelli, Franco; Paquali, F. | |
| FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE | 1-gen-2000 | Minelli, Antonella; Maserati, E; Giudici, G; Tosi, S; Olivieri, Carla; Bonvini, L.; DE FILIPPI, Paola; Biondi, A.; LO CURTO, F.; Pasquali, F.; Danesino, Cesare | |
| Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family | 1-gen-2008 | Mevio, E; Sbrocca, M; Mullace, M; Vettorello, M; Puppin, E; DE FILIPPI, Paola; Olivieri, Carla; Minelli, Antonella; Danesino, Cesare | |
| Genotype-phenotype correlation in Pompe disease, a step forward. | 1-gen-2014 | DE FILIPPI, Paola; Saeidi, K.; Ravaglia, SABRINA MARIA; Dardis, A.; Angelini, C.; Mongini, T.; Morandi, L.; Moggio, M.; Muzio, A. D.; Filosto, M.; Bembi, B.; Giannini, F.; Marrosu, G.; Rigoldi, M.; Tonin, P.; Servidei, S.; Siciliano, G.; Carlucci, A.; Scotti, Claudia; Comelli, MARIO ANGELO; Toscano, A.; Danesino, Cesare | |
| JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia | 1-gen-2007 | Zecca, M.; Bergamaschi, G.; Kratz, C.; Bergstrer, E.; Danesino, Cesare; DE FILIPPI, Paola; Hasle, H.; Lisini, D.; Locatelli, Franco; Pession, A.; Sainati, L.; Stary', J.; Trebo, M.; VAN DEN HEUVEL EIBRINK, M.; Wojcik, D.; Niemeyer, C. M. | |
| Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction? | 1-gen-2021 | Ravaglia, S.; Barbarito, N.; Malovini, A.; Cirio, S.; Pichiecchio, A.; De Filippi, P.; Danesino, C.; Carlucci, A. | |
| Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies | 1-gen-2017 | Pichiecchio, A.; Sacco, S.; De Filippi, P.; Caverzasi, E.; Ravaglia, S.; Bastianello, S.; Danesino, C. | |
| Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group | 1-gen-2016 | Bresolin, Silvia; DE FILIPPI, Paola; Vendemini, Francesca; D'Alia, Mirko; Zecca, Marco; Meyer, Lueder H.; Danesino, Cesare; Locatelli, Franco; Masetti, Riccardo; Basso, Giuseppe; te Kronnie, Geertruy | |
| Ptosis as a feature of late-onset glycogenosis type II. | 1-gen-2007 | Ravaglia, S.; Repetto, A.; DE FILIPPI, Paola; Danesino, Cesare |