Sfoglia per Autore
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis.
2012-01-01 Mignarri, Andrea; Carluccio, MARIA ALESSANDRA; Malandrini, Alessandro; Sicurelli, F; Galli, L; Mazzei, MARIA ANTONIETTA; Federico, Antonio; Orrico, A; Dotti, Maria
Dilated cardiomyopathy and inclusion body myositis.
2012-01-01 Ballo, P; Chiodi, L; Cameli, Matteo; Malandrini, Alessandro; Federico, Antonio; Mondillo, Sergio; Zuppiroli, A.
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting
2012-01-01 Marino, Daniela; Vatti, G; Rufa, Alessandra; Malandrini, Alessandro; Rocchi, Raffaele; Bracco, S; Buccoliero, R; Federico, Antonio
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.
2012-01-01 Tucci, A; Kara, E; Schossig, A; Wolf, Ni; Plagnol, V; Fawcett, K; Paisán Ruiz, C; Moore, M; Hernandez, D; Musumeci, S; Tennison, M; Hennekam, R; Palmeri, Silvia; Malandrini, Alessandro; Raskin, S; Donnai, D; Hennig, C; Tzschach, A; Hordijk, R; Bast, T; Wimmer, K; Lo, Cn; Shorvon, S; Mefford, H; Eichler, Ee; Hall, R; Hayes, I; Hardy, J; Singleton, A; Zschocke, J; Houlden, H.
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
2011-01-01 Stromillo, MARIA LAURA; Malandrini, Alessandro; Dotti, Maria; Battaglini, Marco; Borgogni, Federico; Tessa, A; Storti, E; Denora, Ps; Santorelli, Fm; Gaudiano, Carmen; Battisti, Carla; Federico, Antonio; DE STEFANO, Nicola
Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement.
2011-01-01 Ginanneschi, Federica; Malandrini, Alessandro; Monti, Lucia; Rossi, Alessandro
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
2011-01-01 Duff, R. M.; Tay, V.; Hackman, P.; Ravenscroft, G.; Mclean, C.; Kennedy, P.; Steinbach, A.; Schöffler, W.; van der Ven, P. F.; Fürst, D. O.; Song, J.; Djinović-Carugo, K.; Penttilä, S.; Raheem, O.; Reardon, K.; Malandrini, A.; Gambelli, S.; Villanova, M.; Nowak, K. J.; Williams, D. R.; Landers, J. E.; Brown R. H., Jr; Udd, B.; Laing, N. G.
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
2011-01-01 Kruer, M. C.; Hiken, M.; Gregory, A.; Malandrini, A.; Clark, D.; Hogarth, P.; Grafe, M.; Hayflick, S. J.; Woltjer, R. L.
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation
2011-01-01 Pretegiani, Elena; Rufa, Alessandra; Gallus, Gian Nicola; Cardaioli, Elena; Malandrini, Alessandro; Federico, Antonio
First report of an Iraqi Kurdish CADASIL patient.
2011-01-01 Mignarri, Andrea; Martini, Giuseppe; Malandrini, Alessandro; Bellini, M; Bianchi, Silvia; Tassi, R; Federico, Antonio; Dotti, Maria
Transient "sicca syndrome" during phenobarbital treatment.
2011-01-01 Marino, D; Malandrini, Alessandro; Rocchi, Raffaele; Selvi, E; Federico, Antonio
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family
2010-01-01 Gaudiano, C.; Malandrini, A.; Pollazzon, M.; Murru, S.; Mari, F.; Renieri, A.; Federico, A.
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
2010-01-01 Kruer, M. C.; PAISÁN-RUIZ, C.; Boddaert, N.; Yoon, M. Y.; Hama, H.; Gregory, A.; Malandrini, A.; Woltjer, R. L.; Munnich, A.; Gobin, S.; Polster, B. J.; Palmeri, S.; Edvardson, S.; Hardy, J.; Houlden, H.; Hayflick, S. J.
A second MNGIE patient without typical mitochondrial skeletal muscle involvement
2010-01-01 Cardaioli, E.; DA POZZO, P.; Malfatti, E.; Battisti, C.; Gallus, G. N.; Gaudiano, C.; Macucci, M.; Malandrini, A.; Margollicci, M.; Rubegni, A.; Dotti, M. T.; Federico, A.
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features
2010-01-01 Malfatti, E.; Cardaioli, E.; Battisti, C.; Da Pozzo, P.; Malandrini, Alessandro; Rufa, Alessandra; Rocchi, Raffaele; Federico, Antonio
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study
2010-01-01 Cerase, A; De Francesco, S; Citterio, A; Hadjistilianou, T; Malandrini, A; Mastrangelo, D; Toti, P; Venturi, C
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
2010-01-01 Pollazzon, M.; Suominen, T.; Penttilä, S.; Malandrini, A.; Carluccio, M. A.; Mondelli, M.; Marozza, A.; Federico, A.; Renieri, A.; Hackman, P.; Dotti, M.; Udd, B.
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
2009-01-01 Denora, P. S.; Muglia, M.; Casali, C.; Truchetto, J.; Silvestri, G.; Messina, D.; Boukrhis, A.; Magariello, A.; Modoni, A.; Masciullo, M.; Malandrini, A.; Morelli, M.; DE LEVA, M. F.; Villanova, M.; Giugni, E.; Citrigno, L.; Rizza, T.; Federico, A.; Pierallini, A.; Quattrone, A.; Filla, A.; Brice, A.; Stevanin, G.; Santorelli, F. M.
Evaluation of brain apoptosis in a CADASIL postmortem case
2009-01-01 Battisti, Carla; Formichi, Patrizia; Radi, Elena; Malandrini, Alessandro; Federico, Antonio
Screening of ARHSP-TCC patients expand the spectrum of SPG11 mutations and includes a large scale gene deletion
2009-01-01 Denora, Ps; Sclesinger, D; Casali, C; Kok, F; Tessa, A; Boukhris, A; Azzedine, H; Dotti, M; Bruno, C; Truchett, J; Biancheri, R; Fedirko, E; DI ROCCO, M; Bueno, C; Malandrini, A; Battini, R; Sickl, E; DE LEVA MF, ; BOESPFLUG-TANGUY, O; Silvestri, G; Simonati, A; Said, E; Ferbert, A; Criscuolo, C; Heinimann, K; Modoni, A; Weber, P; Palmeri, S.; Plasilova, M; Pauri, F; Cassandrini, D; Battisti, C; Pini, A; Tosetti, M; Hauser, E; Masciullo, M; Fabio, Rd; Piccolo, F; Denis, E; Cioni, G; Massa, R; Giustina, Ed; Calabrese, O; Melone, Ma; DE MICHELE, G; Federico, A; Bertini, E; Durr, A; Brockmann, K; VAN DER KNAAP MS, ; Zatz, M; Filla, A; Brice, A; Stevanin, G; Santorelli, Fm
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. | 1-gen-2012 | Mignarri, Andrea; Carluccio, MARIA ALESSANDRA; Malandrini, Alessandro; Sicurelli, F; Galli, L; Mazzei, MARIA ANTONIETTA; Federico, Antonio; Orrico, A; Dotti, Maria | - | |
| Dilated cardiomyopathy and inclusion body myositis. | 1-gen-2012 | Ballo, P; Chiodi, L; Cameli, Matteo; Malandrini, Alessandro; Federico, Antonio; Mondillo, Sergio; Zuppiroli, A. | - | |
| Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting | 1-gen-2012 | Marino, Daniela; Vatti, G; Rufa, Alessandra; Malandrini, Alessandro; Rocchi, Raffaele; Bracco, S; Buccoliero, R; Federico, Antonio | - | |
| Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. | 1-gen-2012 | Tucci, A; Kara, E; Schossig, A; Wolf, Ni; Plagnol, V; Fawcett, K; Paisán Ruiz, C; Moore, M; Hernandez, D; Musumeci, S; Tennison, M; Hennekam, R; Palmeri, Silvia; Malandrini, Alessandro; Raskin, S; Donnai, D; Hennig, C; Tzschach, A; Hordijk, R; Bast, T; Wimmer, K; Lo, Cn; Shorvon, S; Mefford, H; Eichler, Ee; Hall, R; Hayes, I; Hardy, J; Singleton, A; Zschocke, J; Houlden, H. | - | |
| Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI | 1-gen-2011 | Stromillo, MARIA LAURA; Malandrini, Alessandro; Dotti, Maria; Battaglini, Marco; Borgogni, Federico; Tessa, A; Storti, E; Denora, Ps; Santorelli, Fm; Gaudiano, Carmen; Battisti, Carla; Federico, Antonio; DE STEFANO, Nicola | - | |
| Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement. | 1-gen-2011 | Ginanneschi, Federica; Malandrini, Alessandro; Monti, Lucia; Rossi, Alessandro | - | |
| Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy | 1-gen-2011 | Duff, R. M.; Tay, V.; Hackman, P.; Ravenscroft, G.; Mclean, C.; Kennedy, P.; Steinbach, A.; Schöffler, W.; van der Ven, P. F.; Fürst, D. O.; Song, J.; Djinović-Carugo, K.; Penttilä, S.; Raheem, O.; Reardon, K.; Malandrini, A.; Gambelli, S.; Villanova, M.; Nowak, K. J.; Williams, D. R.; Landers, J. E.; Brown R. H., Jr; Udd, B.; Laing, N. G. | - | |
| Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration | 1-gen-2011 | Kruer, M. C.; Hiken, M.; Gregory, A.; Malandrini, A.; Clark, D.; Hogarth, P.; Grafe, M.; Hayflick, S. J.; Woltjer, R. L. | - | |
| Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation | 1-gen-2011 | Pretegiani, Elena; Rufa, Alessandra; Gallus, Gian Nicola; Cardaioli, Elena; Malandrini, Alessandro; Federico, Antonio | - | |
| First report of an Iraqi Kurdish CADASIL patient. | 1-gen-2011 | Mignarri, Andrea; Martini, Giuseppe; Malandrini, Alessandro; Bellini, M; Bianchi, Silvia; Tassi, R; Federico, Antonio; Dotti, Maria | - | |
| Transient "sicca syndrome" during phenobarbital treatment. | 1-gen-2011 | Marino, D; Malandrini, Alessandro; Rocchi, Raffaele; Selvi, E; Federico, Antonio | - | |
| Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family | 1-gen-2010 | Gaudiano, C.; Malandrini, A.; Pollazzon, M.; Murru, S.; Mari, F.; Renieri, A.; Federico, A. | - | |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) | 1-gen-2010 | Kruer, M. C.; PAISÁN-RUIZ, C.; Boddaert, N.; Yoon, M. Y.; Hama, H.; Gregory, A.; Malandrini, A.; Woltjer, R. L.; Munnich, A.; Gobin, S.; Polster, B. J.; Palmeri, S.; Edvardson, S.; Hardy, J.; Houlden, H.; Hayflick, S. J. | - | |
| A second MNGIE patient without typical mitochondrial skeletal muscle involvement | 1-gen-2010 | Cardaioli, E.; DA POZZO, P.; Malfatti, E.; Battisti, C.; Gallus, G. N.; Gaudiano, C.; Macucci, M.; Malandrini, A.; Margollicci, M.; Rubegni, A.; Dotti, M. T.; Federico, A. | - | |
| A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features | 1-gen-2010 | Malfatti, E.; Cardaioli, E.; Battisti, C.; Da Pozzo, P.; Malandrini, Alessandro; Rufa, Alessandra; Rocchi, Raffaele; Federico, Antonio | - | |
| Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study | 1-gen-2010 | Cerase, A; De Francesco, S; Citterio, A; Hadjistilianou, T; Malandrini, A; Mastrangelo, D; Toti, P; Venturi, C | - | |
| The first Italian family with tibial muscular dystrophy caused by a novel titin mutation | 1-gen-2010 | Pollazzon, M.; Suominen, T.; Penttilä, S.; Malandrini, A.; Carluccio, M. A.; Mondelli, M.; Marozza, A.; Federico, A.; Renieri, A.; Hackman, P.; Dotti, M.; Udd, B. | - | |
| Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population | 1-gen-2009 | Denora, P. S.; Muglia, M.; Casali, C.; Truchetto, J.; Silvestri, G.; Messina, D.; Boukrhis, A.; Magariello, A.; Modoni, A.; Masciullo, M.; Malandrini, A.; Morelli, M.; DE LEVA, M. F.; Villanova, M.; Giugni, E.; Citrigno, L.; Rizza, T.; Federico, A.; Pierallini, A.; Quattrone, A.; Filla, A.; Brice, A.; Stevanin, G.; Santorelli, F. M. | - | |
| Evaluation of brain apoptosis in a CADASIL postmortem case | 1-gen-2009 | Battisti, Carla; Formichi, Patrizia; Radi, Elena; Malandrini, Alessandro; Federico, Antonio | - | |
| Screening of ARHSP-TCC patients expand the spectrum of SPG11 mutations and includes a large scale gene deletion | 1-gen-2009 | Denora, Ps; Sclesinger, D; Casali, C; Kok, F; Tessa, A; Boukhris, A; Azzedine, H; Dotti, M; Bruno, C; Truchett, J; Biancheri, R; Fedirko, E; DI ROCCO, M; Bueno, C; Malandrini, A; Battini, R; Sickl, E; DE LEVA MF, ; BOESPFLUG-TANGUY, O; Silvestri, G; Simonati, A; Said, E; Ferbert, A; Criscuolo, C; Heinimann, K; Modoni, A; Weber, P; Palmeri, S.; Plasilova, M; Pauri, F; Cassandrini, D; Battisti, C; Pini, A; Tosetti, M; Hauser, E; Masciullo, M; Fabio, Rd; Piccolo, F; Denis, E; Cioni, G; Massa, R; Giustina, Ed; Calabrese, O; Melone, Ma; DE MICHELE, G; Federico, A; Bertini, E; Durr, A; Brockmann, K; VAN DER KNAAP MS, ; Zatz, M; Filla, A; Brice, A; Stevanin, G; Santorelli, Fm | - |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile