Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
De Filippi, Paola, Errichiello, Edoardo, Toscano, Antonio, Mongini, Tiziana, Moggio, Maurizio, Ravaglia, Sabrina, Filosto, Massimiliano, Servidei, Serenella, Musumeci, Olimpia, Giannini, Fabio, Piperno, Alberto, Siciliano, Gabriele, Ricci, Giulia, Di Muzio, Antonio, Rigoldi, Miriam, Tonin, Paola, Croce, Michele Giovanni, Pegoraro, Elena, Politano, Luisa, Maggi, Lorenzo, Telese, Roberta, Lerario, Alberto, Sancricca, Cristina, Vercelli, Liliana, Semplicini, Claudio, Pasanisi, Barbara, Bembi, Bruno, Dardis, Andrea, Palmieri, Ilaria, Cereda, Cristina, Valente, Enza Maria, Danesino, Cesare
Published in Current Issues in Molecular Biology (01.04.2023)
Published in Current Issues in Molecular Biology (01.04.2023)
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Journal Article
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group
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
Published in Oncotarget (17.05.2016)
Published in Oncotarget (17.05.2016)
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Journal Article
Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?
Ravaglia, Sabrina, Barbarito, Nicola, Malovini, Alberto, Cirio, Serena, Pichiecchio, Anna, De Filippi, Paola, Danesino, Cesare, Carlucci, Annalisa
Published in Pulmonology (01.11.2021)
Published in Pulmonology (01.11.2021)
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Journal Article
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up
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
Published in Frontiers in cell and developmental biology (18.02.2022)
Published in Frontiers in cell and developmental biology (18.02.2022)
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Journal Article
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia
Cesaro, Simone, De Filippi, Paola, Di Meglio, Annamaria, Leszl, Anna, Donska, Svetlana, Zaccaron, Ada, Cagioni, Claudia, Galavotti, Roberta, Danesino, Cesare, Aprili, Fiorenza, Cugno, Chiara, te Kronnie, Geertruy, Zecca, Marco, Bresolin, Silvia
Published in International journal of hematology (01.02.2014)
Published in International journal of hematology (01.02.2014)
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Journal Article
Dietary treatment in adult‐onset type II glycogenosis
Ravaglia, Sabrina, Pichiecchio, Anna, Rossi, Miriam, Filippi, Paola De, Minelli, Antonella, Moglia, Arrigo, Danesino, Cesare
Published in Journal of inherited metabolic disease (01.08.2006)
Published in Journal of inherited metabolic disease (01.08.2006)
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Journal Article
Specific polymorphisms of cytokine genes are associated with different risks to develop single‐system or multi‐system childhood Langerhans cell histiocytosis
Filippi, Paola De, Badulli, Carla, Cuccia, Mariaclara, Silvestri, Annalisa De, Dametto, Ennia, Pasi, Annamaria, Garaventa, Alberto, Prever, Adalberto Brach del, Todesco, Alessandra, Trizzino, Antonino, Danesino, Cesare, Martinetti, Miryam, Aricò, Maurizio
Published in British journal of haematology (01.03.2006)
Published in British journal of haematology (01.03.2006)
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Journal Article
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease
Ravaglia, Sabrina, Malovini, Alberto, Cirio, Serena, Danesino, Cesare, De Filippi, Paola, Moggio, Maurizio, Mongini, Tiziana, Maggi, Lorenzo, Servidei, Serena, Vianello, Andrea, Toscano, Antonio, Tonin, Paola, Maioli, Maria Antonietta, Parini, Rossella, Filosto, Massimiliano, Crescimanno, Grazia, Arceri, Sebastiano, Piran, Manuela, Carlucci, Annalisa
Published in Journal of applied physiology (1985) (01.12.2021)
Published in Journal of applied physiology (1985) (01.12.2021)
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Journal Article
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy
Parenti, Giancarlo, Fecarotta, Simona, la Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, Andria, Generoso
Published in Molecular therapy (01.11.2014)
Published in Molecular therapy (01.11.2014)
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Journal Article
Genotype-phenotype correlation in Pompe disease, a step forward
De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Published in Orphanet journal of rare diseases (08.08.2014)
Published in Orphanet journal of rare diseases (08.08.2014)
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Journal Article
Secondary Mutations of JAK3 and SETBP1 in Juvenile Myelomonocytic Leukemia and Their Propagating Capacity; A Report from the AIEOP Study Group
Bresolin, Silvia, De Filippi, Paola, Vendemini, Francesca, Masetti, Riccardo, Locatelli, Franco, te Kronnie, Geertruy
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
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Journal Article
Germ‐line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia
De Filippi, Paola, Zecca, Marco, Lisini, Daniela, Rosti, Vittorio, Cagioni, Claudia, Carlo‐Stella, Carmelo, Radi, Orietta, Veggiotti, Pierangelo, Mastronuzzi, Angela, Acquaviva, Antonio, D’Ambrosio, Alfonso, Locatelli, Franco, Danesino, Cesare
Published in British journal of haematology (01.12.2009)
Published in British journal of haematology (01.12.2009)
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Journal Article
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?
Ravaglia, Sabrina, De Filippi, Paola, Pichiecchio, Anna, Ponzio, Michela, Saeidi Garaghani, Kolsoum, Poloni, Guy Umberto, Bini, Paola, Danesino, Cesare
Published in Molecular genetics and metabolism (01.09.2012)
Published in Molecular genetics and metabolism (01.09.2012)
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Journal Article
Ptosis as a feature of late-onset glycogenosis type II
Ravaglia, Sabrina, Repetto, Alessandra, De Filippi, Paola, Danesino, Cesare
Published in Neurology (03.07.2007)
Published in Neurology (03.07.2007)
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Journal Article
A Chaperone Enhances Blood [alpha]-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy
Parenti, Giancarlo, Fecarotta, Simona, La Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, Andria, Generoso
Published in Molecular therapy (01.11.2014)
Published in Molecular therapy (01.11.2014)
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Journal Article
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
de Filippi, Paola, Ravaglia, Sabrina, Bembi, Bruno, Costa, Alfredo, Moglia, Arrigo, Piccolo, Giovanni, Repetto, Alessandra, Dardis, Andrea, Greco, Giuseppe, Ciana, Giovanni, Canevari, Francesco, Danesino, Cesare
Published in Genetics in medicine (01.04.2010)
Published in Genetics in medicine (01.04.2010)
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Journal Article
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia
De Filippi, Paola, Zecca, Marco, Novara, Francesca, Lisini, Daniela, Maserati, Emanuela, Pasquali, Francesco, Rosti, Vittorio, Carlo-Stella, Carmelo, Zavras, Niki, Cagioni, Claudia, Zuffardi, Orsetta, Pagliara, Daria, Danesino, Cesare, Locatelli, Franco
Published in Pediatric blood & cancer (01.09.2012)
Published in Pediatric blood & cancer (01.09.2012)
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Journal Article
short report: Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis
Filippi, Paola De, Badulli, Carla, Cuccia, Mariaclara, Silvestri, Annalisa De, Dametto, Ennia, Pasi, Annamaria, Garaventa, Alberto, Prever, Adalberto Brach del, Todesco, Alessandra, Trizzino, Antonino, Danesino, Cesare, Martinetti, Miryam, Arico, Maurizio
Published in British journal of haematology (01.03.2006)
Published in British journal of haematology (01.03.2006)
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Journal Article
TNF-α-238GA, IL-1α-889CC and IL-10–819CC Polymorphisms Confere an Increased Risk to Develop Multisystem Langerhans Cell Histiocytosis
De Filippi, Paola, Danesino, Cesare, Ferrarese, Diego, De Silvestri, Annalisa, Badulli, Carla, Trizzino, Antonino, Fidani, Paola, Garaventa, Alberto, Lombardi, Alessandra, Cuccia, Mariaclara, Martinetti, Miryam, Aricò, Maurizio
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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