Sfoglia per Autore
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
2012-01-01 Scionti, I; Greco, F; Ricci, G; Govi, M; Arashiro, P; Vercelli, L; Berardinelli, A; Angelini, Carlo; Antonini, G; Cao, M; Di Muzio, A; Moggio, M; Morandi, L; Ricci, E; Rodolico, C; Ruggiero, L; Santoro, L; Siciliano, Gabriele; Tomelleri, G; Trevisan, Cp; Galluzzi, G; Wright, W; Zatz, M; Tupler, R.
Response.
2012-01-01 Ricci, G; Scionti, I; Tupler, R; Siciliano, Gabriele
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
2012-01-01 Angelini, C; Semplicini, C; Ravaglia, S; Bembi, B; Servidei, S; Pegoraro, E; Moggio, M; Filosto, M; Sette, E; Crescimanno, G; Tonin, P; Parini, R; Morandi, L; Marrosu, G; Greco, G; Musumeci, O; Di Iorio, G; Siciliano, Gabriele; Donati, Ma; Carubbi, F; Ermani, M; Mongini, T; Toscano, A; The Italian GSDII, Group; Ricci, Giulia
Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment.
2012-01-01 Orsucci, Daniele; Pizzanelli, Chiara; Ali', Greta; Calabrese, Rosanna; Ricci, Giulia; Lenzi, Paola; Petrozzi, Lucia; Moretti, Policarpo; Siciliano, Gabriele
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes
2012-01-01 Ricci, Giulia; Scionti, Isabella; Alì, Greta; Volpi, Leda; Zampa, Virna; Fanin, Marina; Angelini, Corrado; Politano, Luisa; Tupler, Rossella; Siciliano, Gabriele
Folate, homocysteine, vitamin B12 and polymorphisms of genes participating in one-carbon metabolism in late onset Alzheimer's disease patients and healthy controls.
2012-01-01 Coppede', Fabio; Tannorella, Pierpaola; Pezzini, Ilaria; Migheli, Francesca; Ricci, Giulia; Caldarazzo lenco, Elena; Piaceri, Irene; Polini, Antonio; Nacmias, Benedetta; Monzani, Fabio; Sorbi, Sandro; Siciliano, Gabriele; Migliore, Lucia
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling
2012-01-01 Scionti, Isabella; Fabbri, Greta; Fiorillo, Chiara; Ricci, Giulia; Greco, Francesca; D'Amico, Roberto; Termanini, Alberto; Vercelli, Liliana; Tomelleri, Giuliano; Cao, Michelangelo; Santoro, Lucio; Percesepe, Antonio; Tupler, Rossella
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
2012-01-01 Brioschi, S; Gualandi, F; Scotton, C; Armaroli, A; Bovolenta, M; Falzarano, Ms; Sabatelli, P; Selvatici, R; D'Amico, A; Pane, M; Ricci, G; Siciliano, Gabriele; Tedeschi, S; Pini, A; Vercelli, L; De Grandis, D; Mercuri, E; Bertini, E; Merlini, L; Mongini, T; Ferlini, A.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
2013-01-01 Ricci, G; Scionti, I; Sera, F; Govi, M; D'Amico, R; Frambolli, I; Mele, F; Filosto, M; Vercelli, L; Ruggiero, L; Berardinelli, A; Angelini, C; Antonini, G; Bucci, E; Cao, M; Daolio, J; Di Muzio, A; Di Leo, R; Galluzzi, G; Iannaccone, E; Maggi, L; Maruotti, V; Moggio, M; Mongini, T; Morandi, L; Nikolic, A; Pastorello, E; Ricci, E; Rodolico, C; Santoro, L; Servida, M; Siciliano, Gabriele; Tomelleri, G; Tupler, R.
CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers.
2013-01-01 Fontana, M; Barison, A; Botto, N; Panchetti, L; Ricci, G; Milanesi, M; Poletti, R; Positano, V; Siciliano, Gabriele; Passino, C; Lombardi, M; Emdin, M; Masci, P. G.
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations.
2013-01-01 Ricci, Giulia
An "inflammatory" mitochondrial myopathy. A case report
2013-01-01 Mancuso, Michelangelo; Orsucci, Daniele; Caldarazzo Ienco, Elena; Ricci, Giulia; Ali, Greta; Servadio, Adele; Fontanini, Gabriella; Filosto, Massimiliano; Vielmi, Valentina; Rocchi, Anna; Petrozzi, Lucia; Lo Gerfo, Annalisa; Siciliano, Gabriele
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
2013-01-01 Torella, A; Fanin, M; Mutarelli, M; Peterle, E; Del Vecchio Blanco, F; Rispoli, R; Savarese, M; Garofalo, A; Piluso, G; Morandi, L; Ricci, G; Siciliano, Gabriele; Angelini, Carlo; Nigro, V.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
2013-01-01 Ricci, Giulia
The empowerment of translational research: lessons from laminopathies
2013-01-01 Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, Gabriele; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M.
Posterior reversible encephalopathy syndrome in a complicated autoimmune background: Differential diagnosis and etiological hypothesis
2013-01-01 Bartolini, Emanuele; Baldini, Mariella; Ricci, Giulia
LMNA-associated myopathies: the Italian experience in a large cohort of patients
2014-01-01 Maggi, Lorenzo; D'Amico, Adele; Pini, Antonella; Sivo, Serena; Pane, Marika; Ricci, Giulia; Vercelli, Liliana; D'Ambrosio, Paola; Travaglini, Lorena; Sala, Simone; Brenna, Greta; Kapetis, Dimos; Scarlato, Marina; Pegoraro, Elena; Ferrari, Maurizio; Toscano, Antonio; Benedetti, Sara; Bernasconi, Pia; Colleoni, Lara; Lattanzi, Giovanna; Bertini, Enrico; Mercuri, Eugenio; Siciliano, Gabriele; Rodolico, Carmelo; Mongini, Tiziana; Politano, Luisa; Previtali, Stefano C; Carboni, Nicola; Mantegazza, Renato; Morandi, Lucia
Study of the porcine dermal collagen repair patch in morpho-functional recovery of the rotator cuff after minimum follow-up of 2.5 years
2014-01-01 Giannotti, Stefano; Ghilardi, Marco; Dell'Osso, Giacomo; Magistrelli, Luca; Bugelli, Giulia; Di Rollo, Frederica; Ricci, Giulia; Calabrese, Rosanna; Siciliano, Gabriele; Guido, Giulio
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates
2014-01-01 Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, Carlo; Sorrentino, Vincenzo
"I have got something positive out of this situation": Psychological benefits of caregiving in relatives of young people with muscular dystrophy
2014-01-01 Magliano, Lorenza; Patalano, Melania; Sagliocchi, Alessandra; Scutifero, Marianna; Zaccaro, Antonella; D'Angelo, Maria Grazia; Civati, Federica; Brighina, Erika; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Sframeli, Maria; Pane, Marika; Lombardo, Maria Elena; Scalise, Roberta; D'Amico, Adele; Colia, Giulia; Catteruccia, Michela; Balottin, Umberto; Berardinelli, Angela; Motta, Maria Chiara; Angelini, Corrado; Gaiani, Alessandra; Semplicini, Claudio; Bello, Luca; Battini, Roberta; Astrea, Guja; Ricci, Giulia; Politano, Luisa
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. | 1-gen-2012 | Scionti, I; Greco, F; Ricci, G; Govi, M; Arashiro, P; Vercelli, L; Berardinelli, A; Angelini, Carlo; Antonini, G; Cao, M; Di Muzio, A; Moggio, M; Morandi, L; Ricci, E; Rodolico, C; Ruggiero, L; Santoro, L; Siciliano, Gabriele; Tomelleri, G; Trevisan, Cp; Galluzzi, G; Wright, W; Zatz, M; Tupler, R. | |
| Response. | 1-gen-2012 | Ricci, G; Scionti, I; Tupler, R; Siciliano, Gabriele | |
| Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. | 1-gen-2012 | Angelini, C; Semplicini, C; Ravaglia, S; Bembi, B; Servidei, S; Pegoraro, E; Moggio, M; Filosto, M; Sette, E; Crescimanno, G; Tonin, P; Parini, R; Morandi, L; Marrosu, G; Greco, G; Musumeci, O; Di Iorio, G; Siciliano, Gabriele; Donati, Ma; Carubbi, F; Ermani, M; Mongini, T; Toscano, A; The Italian GSDII, Group; Ricci, Giulia | |
| Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment. | 1-gen-2012 | Orsucci, Daniele; Pizzanelli, Chiara; Ali', Greta; Calabrese, Rosanna; Ricci, Giulia; Lenzi, Paola; Petrozzi, Lucia; Moretti, Policarpo; Siciliano, Gabriele | |
| Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes | 1-gen-2012 | Ricci, Giulia; Scionti, Isabella; Alì, Greta; Volpi, Leda; Zampa, Virna; Fanin, Marina; Angelini, Corrado; Politano, Luisa; Tupler, Rossella; Siciliano, Gabriele | |
| Folate, homocysteine, vitamin B12 and polymorphisms of genes participating in one-carbon metabolism in late onset Alzheimer's disease patients and healthy controls. | 1-gen-2012 | Coppede', Fabio; Tannorella, Pierpaola; Pezzini, Ilaria; Migheli, Francesca; Ricci, Giulia; Caldarazzo lenco, Elena; Piaceri, Irene; Polini, Antonio; Nacmias, Benedetta; Monzani, Fabio; Sorbi, Sandro; Siciliano, Gabriele; Migliore, Lucia | |
| Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling | 1-gen-2012 | Scionti, Isabella; Fabbri, Greta; Fiorillo, Chiara; Ricci, Giulia; Greco, Francesca; D'Amico, Roberto; Termanini, Alberto; Vercelli, Liliana; Tomelleri, Giuliano; Cao, Michelangelo; Santoro, Lucio; Percesepe, Antonio; Tupler, Rossella | |
| Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype | 1-gen-2012 | Brioschi, S; Gualandi, F; Scotton, C; Armaroli, A; Bovolenta, M; Falzarano, Ms; Sabatelli, P; Selvatici, R; D'Amico, A; Pane, M; Ricci, G; Siciliano, Gabriele; Tedeschi, S; Pini, A; Vercelli, L; De Grandis, D; Mercuri, E; Bertini, E; Merlini, L; Mongini, T; Ferlini, A. | |
| Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. | 1-gen-2013 | Ricci, G; Scionti, I; Sera, F; Govi, M; D'Amico, R; Frambolli, I; Mele, F; Filosto, M; Vercelli, L; Ruggiero, L; Berardinelli, A; Angelini, C; Antonini, G; Bucci, E; Cao, M; Daolio, J; Di Muzio, A; Di Leo, R; Galluzzi, G; Iannaccone, E; Maggi, L; Maruotti, V; Moggio, M; Mongini, T; Morandi, L; Nikolic, A; Pastorello, E; Ricci, E; Rodolico, C; Santoro, L; Servida, M; Siciliano, Gabriele; Tomelleri, G; Tupler, R. | |
| CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers. | 1-gen-2013 | Fontana, M; Barison, A; Botto, N; Panchetti, L; Ricci, G; Milanesi, M; Poletti, R; Positano, V; Siciliano, Gabriele; Passino, C; Lombardi, M; Emdin, M; Masci, P. G. | |
| D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. | 1-gen-2013 | Ricci, Giulia | |
| An "inflammatory" mitochondrial myopathy. A case report | 1-gen-2013 | Mancuso, Michelangelo; Orsucci, Daniele; Caldarazzo Ienco, Elena; Ricci, Giulia; Ali, Greta; Servadio, Adele; Fontanini, Gabriella; Filosto, Massimiliano; Vielmi, Valentina; Rocchi, Anna; Petrozzi, Lucia; Lo Gerfo, Annalisa; Siciliano, Gabriele | |
| Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. | 1-gen-2013 | Torella, A; Fanin, M; Mutarelli, M; Peterle, E; Del Vecchio Blanco, F; Rispoli, R; Savarese, M; Garofalo, A; Piluso, G; Morandi, L; Ricci, G; Siciliano, Gabriele; Angelini, Carlo; Nigro, V. | |
| Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. | 1-gen-2013 | Ricci, Giulia | |
| The empowerment of translational research: lessons from laminopathies | 1-gen-2013 | Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, Gabriele; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M. | |
| Posterior reversible encephalopathy syndrome in a complicated autoimmune background: Differential diagnosis and etiological hypothesis | 1-gen-2013 | Bartolini, Emanuele; Baldini, Mariella; Ricci, Giulia | |
| LMNA-associated myopathies: the Italian experience in a large cohort of patients | 1-gen-2014 | Maggi, Lorenzo; D'Amico, Adele; Pini, Antonella; Sivo, Serena; Pane, Marika; Ricci, Giulia; Vercelli, Liliana; D'Ambrosio, Paola; Travaglini, Lorena; Sala, Simone; Brenna, Greta; Kapetis, Dimos; Scarlato, Marina; Pegoraro, Elena; Ferrari, Maurizio; Toscano, Antonio; Benedetti, Sara; Bernasconi, Pia; Colleoni, Lara; Lattanzi, Giovanna; Bertini, Enrico; Mercuri, Eugenio; Siciliano, Gabriele; Rodolico, Carmelo; Mongini, Tiziana; Politano, Luisa; Previtali, Stefano C; Carboni, Nicola; Mantegazza, Renato; Morandi, Lucia | |
| Study of the porcine dermal collagen repair patch in morpho-functional recovery of the rotator cuff after minimum follow-up of 2.5 years | 1-gen-2014 | Giannotti, Stefano; Ghilardi, Marco; Dell'Osso, Giacomo; Magistrelli, Luca; Bugelli, Giulia; Di Rollo, Frederica; Ricci, Giulia; Calabrese, Rosanna; Siciliano, Gabriele; Guido, Giulio | |
| A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates | 1-gen-2014 | Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, Carlo; Sorrentino, Vincenzo | |
| "I have got something positive out of this situation": Psychological benefits of caregiving in relatives of young people with muscular dystrophy | 1-gen-2014 | Magliano, Lorenza; Patalano, Melania; Sagliocchi, Alessandra; Scutifero, Marianna; Zaccaro, Antonella; D'Angelo, Maria Grazia; Civati, Federica; Brighina, Erika; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Sframeli, Maria; Pane, Marika; Lombardo, Maria Elena; Scalise, Roberta; D'Amico, Adele; Colia, Giulia; Catteruccia, Michela; Balottin, Umberto; Berardinelli, Angela; Motta, Maria Chiara; Angelini, Corrado; Gaiani, Alessandra; Semplicini, Claudio; Bello, Luca; Battini, Roberta; Astrea, Guja; Ricci, Giulia; Politano, Luisa |
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