PIRAS, RACHELE
PIRAS, RACHELE
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
Detection and multidisciplinary care of myopathic patients in Ogliastra
2017-01-01 Piras, R; Maioli, Ma; Murru, Mr; Costa, G; Solla, E; Mancosu, C; Mammoliti, R; Marrosu, G
IgG anti rh-GAA assessment in an italian cohort of patient with late onset Pompe disease.
2017-01-01 Filosto, M; Cotti, P; Marchesi, M; Di Muzio, A; Donati, M. A.; Galvagni, A; Lerario, A; Marrosu, G; Moggio, M; Mongini, T; Musumeci, O; Pegoraro, E; Piras, R; Ravaglia, S; Sacchini, M; Sancricca, C; Semplicini, C; Servidei, S; Sicilianog, ; Telese, R; Tonin, P; Caria, F; Rota, S; Padovani, A; Toscano, A.
The importance of muscle biopsy for muscle disease experts: a review of Sardinian data.
2017-01-01 Piras, R; Maioli, Ma; Murru, Mr; Costa, G; Solla, E; Mancosu, C; Mammoliti, R; Marrosu, G.
Difficulty in defining role of genetic mutations: a case report.
2016-01-01 Piras, R.; Maioli, M. A.; Mateddu, A.; Mammoliti, R.; Marrosu., G.
DNAJB6 myopathy: not only a vacuolar myopathy.
2016-01-01 Piras, R.; Maioli, M. A.; Mammoliti, R.; Mora, M.; Marrosu., G.
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
2016-01-01 Akman, H. Orhan; Aykit, Yavuz; Amuk, Ozge Ceren; Malfatti, Edoardo; Romero, Norma B.; Maioli, Maria Antonietta; Piras, Rachele; Dimauro, Salvatore; Marrosu, Gianni
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
2016-01-01 Musumeci, O; la Marca, G; Spada, M; Mondello, S; Danesino, C; Comi, Gp; Pegoraro, E; Antonini, G; Marrosu, G; Liguori, R; Morandi, L; Moggio, M; Massa, R; Ravaglia, S; Di Muzio, A; Filosto, M; Tonin, P; Di Iorio, G; Servidei, S; Siciliano, G; Angelini, C; Mongini, T; Toscano, A; Piras, R; the Italian GSD, II Group
Difficulty in detecting Alpha dystroglycanopathy: a case report.
2015-01-01 Piras, R.; Iascone, M.; A: Maioli, M.; Mateddu, A.; Pezzoli, L.; Sana, M. E.; Marrosu, G.
Influence of treatments in multiple sclerosis disability: a cohort study
2015-01-01 Cocco, Eleonora; Sardu, Claudia; Spinicci, Gabriella; Musu, Luigina; Massa, Rita; Frau, Jessica; Lorefice, Lorena; Fenu, Giuseppe; Coghe, Giancarlo; Massole, Serenella; Maioli, Maria Antonietta; Piras, Rachele; Melis, Marta; Porcu, Gianluca; Mamusa, Elena; Carboni, Nicola; Contu, Paolo; Marrosu, Maria Giovanna
Sardinian cluster of GYG1 mutation.
2015-01-01 Piras, R.; Malfatti, E.; Akman, O.; Maioli, M. A.; Mateddu, A.; Di Mauro, S.; Marrosu, G.
Genotype-phenotype correlation in Pompe disease, a step forward
2014-01-01 De Filippi1, 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; Vercelli, L.; Parini, R.; Zincone, Alessandra; Greco, G.; Maioli, M.; Lucchini, V.; Ripolone, M.; Comi, G. P.; Pasanisi, M. B.; Piras, R.; Barca, E.; Giannini, G. Ricci F.
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin
2014-01-01 Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice, Maria R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli, Maria A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu, Maria G.; Hegele, Robert A.
Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib
2012-01-01 Caocci, Giovanni; Maioli, Ma; Atzeni, S; Piras, R; Carboni, Nicola; LA NASA, Giorgio
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy
2012-01-01 Carboni, Nicola; Mura, Marco; Mercuri, Eugenio; Marrosu, Giovanni; Manzi, Rosa C; Cocco, Eleonora; Nissardi, Vincenzo; Isola, Franco; Mateddu, Anna; Solla, Elisabeta; Maioli, Maria A; Oppo, Valentina; Piras, Rachele; Marini, Stefano; Lai, Carlo; Politano, Luisa; Marrosu, Maria G
Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation
2012-01-01 Carboni, Nicola; Sardu, Claudia; Cocco, Eleonora; Marrosu, G; Manzi, Rc; Nissardi, V; Isola, F; Mateddu, A; Solla, E; Maioli, Ma; Oppo, V; Piras, R; Coghe, Giancarlo; Lai, C; Marrosu, MARIA GIOVANNA
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy
2012-01-01 Angelini, Corrado; Semplicini, Claudio; Ravaglia, Sabrina; Moggio, Maurizio; Comi, Giacomo P.; Musumeci, Olimpia; Pegoraro, Elena; Tonin, Paola; Filosto, Massimiliano; Servidei, Serenella; Morandi, Lucia; Crescimanno, Grazia; Marrosu, Giovanni; Siciliano, Gabriele; Mongini, Tiziana; Toscano, Antonio; Sette, E.; Tugnoli, V.; Parini, R.; Rigoldi, M.; Donati, M. D.; Gasperini, S.; Vercelli, L.; Barca, E.; Di Giacopo, R.; Pasanisi, M. B.; Bembi, B.; Lucchini, V.; Piras, R.; Ricci, G.; Di Iorio, G.; Diodato, D.; Carubbi, F.; Ariatti, A.
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
2012-01-01 Angelini, C1; 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, G; Donati, Ma; Carubbi, F; Ermani, M; Mongini, T; Toscano, A; Italian GSDII, Group; Vercelli, L; di Giacopo, R; Lucchini, V; Comi, G; Tugnoli, V; Anna, S; Rigoldi, M; Pasanisi, M; Piras, R; Giannini, F; Barca, E; Gasperini, S; Ricci, G; Diodato, D; Ariatti, A; Emilia, R.
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5
2011-01-01 Carboni, Nicola; Floris, M; Mateddu, A; Porcu, M; Marrosu, G; Solla, E; Cocco, Eleonora; Mura, M; Marini, S; Maioli, Ma; Piras, R; Aste, R; Marrosu, MARIA GIOVANNA
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
2011-01-01 Carboni, Nicola; Marrosu, G; Porcu, M; Mateddu, A; Solla, E; Cocco, Eleonora; Maioli, Ma; Oppo, V; Piras, R; Marrosu, MARIA GIOVANNA
The cohort of the multiple sclerosis center of Cagliari
2011-01-01 Marrosu, MARIA GIOVANNA; Lorefice, Lorena; Frau, Jessica; Coghe, Giancarlo; Fenu, G; Piras, R; Melis, M; Cocco, Eleonora
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Detection and multidisciplinary care of myopathic patients in Ogliastra | 1-gen-2017 | Piras, R; Maioli, Ma; Murru, Mr; Costa, G; Solla, E; Mancosu, C; Mammoliti, R; Marrosu, G | ACTA MYOLOGICA | - |
| IgG anti rh-GAA assessment in an italian cohort of patient with late onset Pompe disease. | 1-gen-2017 | Filosto, M; Cotti, P; Marchesi, M; Di Muzio, A; Donati, M. A.; Galvagni, A; Lerario, A; Marrosu, G; Moggio, M; Mongini, T; Musumeci, O; Pegoraro, E; Piras, R; Ravaglia, S; Sacchini, M; Sancricca, C; Semplicini, C; Servidei, S; Sicilianog, ; Telese, R; Tonin, P; Caria, F; Rota, S; Padovani, A; Toscano, A. | ACTA MYOLOGICA | - |
| The importance of muscle biopsy for muscle disease experts: a review of Sardinian data. | 1-gen-2017 | Piras, R; Maioli, Ma; Murru, Mr; Costa, G; Solla, E; Mancosu, C; Mammoliti, R; Marrosu, G. | ACTA MYOLOGICA | - |
| Difficulty in defining role of genetic mutations: a case report. | 1-gen-2016 | Piras, R.; Maioli, M. A.; Mateddu, A.; Mammoliti, R.; Marrosu., G. | ACTA MYOLOGICA | - |
| DNAJB6 myopathy: not only a vacuolar myopathy. | 1-gen-2016 | Piras, R.; Maioli, M. A.; Mammoliti, R.; Mora, M.; Marrosu., G. | ACTA MYOLOGICA | - |
| Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 | 1-gen-2016 | Akman, H. Orhan; Aykit, Yavuz; Amuk, Ozge Ceren; Malfatti, Edoardo; Romero, Norma B.; Maioli, Maria Antonietta; Piras, Rachele; Dimauro, Salvatore; Marrosu, Gianni | NEUROMUSCULAR DISORDERS | - |
| LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population | 1-gen-2016 | Musumeci, O; la Marca, G; Spada, M; Mondello, S; Danesino, C; Comi, Gp; Pegoraro, E; Antonini, G; Marrosu, G; Liguori, R; Morandi, L; Moggio, M; Massa, R; Ravaglia, S; Di Muzio, A; Filosto, M; Tonin, P; Di Iorio, G; Servidei, S; Siciliano, G; Angelini, C; Mongini, T; Toscano, A; Piras, R; the Italian GSD, II Group | JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY | - |
| Difficulty in detecting Alpha dystroglycanopathy: a case report. | 1-gen-2015 | Piras, R.; Iascone, M.; A: Maioli, M.; Mateddu, A.; Pezzoli, L.; Sana, M. E.; Marrosu, G. | ACTA MYOLOGICA | - |
| Influence of treatments in multiple sclerosis disability: a cohort study | 1-gen-2015 | Cocco, Eleonora; Sardu, Claudia; Spinicci, Gabriella; Musu, Luigina; Massa, Rita; Frau, Jessica; Lorefice, Lorena; Fenu, Giuseppe; Coghe, Giancarlo; Massole, Serenella; Maioli, Maria Antonietta; Piras, Rachele; Melis, Marta; Porcu, Gianluca; Mamusa, Elena; Carboni, Nicola; Contu, Paolo; Marrosu, Maria Giovanna | MULTIPLE SCLEROSIS | - |
| Sardinian cluster of GYG1 mutation. | 1-gen-2015 | Piras, R.; Malfatti, E.; Akman, O.; Maioli, M. A.; Mateddu, A.; Di Mauro, S.; Marrosu, G. | ACTA MYOLOGICA | - |
| Genotype-phenotype correlation in Pompe disease, a step forward | 1-gen-2014 | De Filippi1, 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; Vercelli, L.; Parini, R.; Zincone, Alessandra; Greco, G.; Maioli, M.; Lucchini, V.; Ripolone, M.; Comi, G. P.; Pasanisi, M. B.; Piras, R.; Barca, E.; Giannini, G. Ricci F. | ORPHANET JOURNAL OF RARE DISEASES | - |
| Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin | 1-gen-2014 | Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice, Maria R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli, Maria A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu, Maria G.; Hegele, Robert A. | MUSCLE & NERVE | - |
| Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib | 1-gen-2012 | Caocci, Giovanni; Maioli, Ma; Atzeni, S; Piras, R; Carboni, Nicola; LA NASA, Giorgio | LEUKEMIA RESEARCH | - |
| Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy | 1-gen-2012 | Carboni, Nicola; Mura, Marco; Mercuri, Eugenio; Marrosu, Giovanni; Manzi, Rosa C; Cocco, Eleonora; Nissardi, Vincenzo; Isola, Franco; Mateddu, Anna; Solla, Elisabeta; Maioli, Maria A; Oppo, Valentina; Piras, Rachele; Marini, Stefano; Lai, Carlo; Politano, Luisa; Marrosu, Maria G | NEUROMUSCULAR DISORDERS | - |
| Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation | 1-gen-2012 | Carboni, Nicola; Sardu, Claudia; Cocco, Eleonora; Marrosu, G; Manzi, Rc; Nissardi, V; Isola, F; Mateddu, A; Solla, E; Maioli, Ma; Oppo, V; Piras, R; Coghe, Giancarlo; Lai, C; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy | 1-gen-2012 | Angelini, Corrado; Semplicini, Claudio; Ravaglia, Sabrina; Moggio, Maurizio; Comi, Giacomo P.; Musumeci, Olimpia; Pegoraro, Elena; Tonin, Paola; Filosto, Massimiliano; Servidei, Serenella; Morandi, Lucia; Crescimanno, Grazia; Marrosu, Giovanni; Siciliano, Gabriele; Mongini, Tiziana; Toscano, Antonio; Sette, E.; Tugnoli, V.; Parini, R.; Rigoldi, M.; Donati, M. D.; Gasperini, S.; Vercelli, L.; Barca, E.; Di Giacopo, R.; Pasanisi, M. B.; Bembi, B.; Lucchini, V.; Piras, R.; Ricci, G.; Di Iorio, G.; Diodato, D.; Carubbi, F.; Ariatti, A. | MUSCLE & NERVE | - |
| Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years | 1-gen-2012 | Angelini, C1; 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, G; Donati, Ma; Carubbi, F; Ermani, M; Mongini, T; Toscano, A; Italian GSDII, Group; Vercelli, L; di Giacopo, R; Lucchini, V; Comi, G; Tugnoli, V; Anna, S; Rigoldi, M; Pasanisi, M; Piras, R; Giannini, F; Barca, E; Gasperini, S; Ricci, G; Diodato, D; Ariatti, A; Emilia, R. | JOURNAL OF NEUROLOGY | - |
| Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5 | 1-gen-2011 | Carboni, Nicola; Floris, M; Mateddu, A; Porcu, M; Marrosu, G; Solla, E; Cocco, Eleonora; Mura, M; Marini, S; Maioli, Ma; Piras, R; Aste, R; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype? | 1-gen-2011 | Carboni, Nicola; Marrosu, G; Porcu, M; Mateddu, A; Solla, E; Cocco, Eleonora; Maioli, Ma; Oppo, V; Piras, R; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| The cohort of the multiple sclerosis center of Cagliari | 1-gen-2011 | Marrosu, MARIA GIOVANNA; Lorefice, Lorena; Frau, Jessica; Coghe, Giancarlo; Fenu, G; Piras, R; Melis, M; Cocco, Eleonora | NEUROLOGICAL SCIENCES | - |