356 results on '"Bellone E"'
Search Results
2. Parametric Modeling of Transitioning Cyclone Wind Fields for Risk Assessment Studies in the Western North Pacific
- Author
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Loridan, T., Khare, S., Scherer, E., Dixon, M., and Bellone, E.
- Published
- 2015
3. Cyclone Wind Field Asymmetries during Extratropical Transition in the Western North Pacific
- Author
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Loridan, T., Scherer, E., Dixon, M., Bellone, E., and Khare, S.
- Published
- 2014
4. A Simulation Approach for Estimating Hurricane Risk over a 5-yr Horizon
- Author
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Bonazzi, A., Dobbin, A. L., Turner, J. K., Wilson, P. S, Mitas, C., and Bellone, E.
- Published
- 2014
5. The Discovery by Galileo of Jupiter’s Moons
- Author
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Bellone, E., Barbieri, Cesare, editor, Rahe, Jürgen H., editor, Johnson, Torrence V., editor, and Sohus, Anita M., editor
- Published
- 1998
- Full Text
- View/download PDF
6. Contribution of copy number variations in CMT1X: a retrospective study
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Capponi, S., Geroldi, A., Pezzini, I., Gulli, R., Ciotti, P., Ursino, G., Lamp, M., Reni, L., Schenone, A., Grandis, M., Mandich, P., and Bellone, E.
- Published
- 2015
- Full Text
- View/download PDF
7. Spatial-temporal rainfall modelling for flood risk estimation
- Author
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Wheater, H. S., Chandler, R. E., Onof, C. J., Isham, V. S., Bellone, E., Yang, C., Lekkas, D., Lourmas, G., and Segond, M.-L.
- Published
- 2005
- Full Text
- View/download PDF
8. A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect
- Author
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Di Maria, E., Gulli, R., Balestra, P., Cassandrini, D., Pigullo, S., Doria-Lamba, L., Bado, M., Schenone, A., Ajmar, F., Mandich, P., and Bellone, E.
- Subjects
Nerve proteins -- Genetic aspects ,Charcot-Marie-Tooth disease -- Genetic aspects ,Health ,Psychology and mental health - Published
- 2004
9. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
- Author
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Santoro, L., Manganelli, F., Di Maria, E., Bordo, D., Cassandrini, D., Ajmar, F., Mandich, P., and Bellone, E.
- Subjects
Charcot-Marie-Tooth disease -- Research -- Genetic aspects ,Health ,Psychology and mental health ,Research ,Genetic aspects - Abstract
J Neurol Neurosurg Psychiatry 2004;75:262-265 Objective: To report a new mutation in the MPZ gene which encodes myelin protein zero (P0), associated with an axonal form of Charcot-Marie-Tooth disease (CMT). [...]
- Published
- 2004
10. No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients
- Author
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Pigullo, S., Di Maria, E., Marchese, R., Assini, A., Bellone, E., Scaglione, C., Vitale, C., Bonuccelli, U., Barone, P., Ajmar, F., Martinelli, P., Abbruzzese, G., and Mandich, P.
- Published
- 2001
- Full Text
- View/download PDF
11. Linkage exclusion in Italian families with hereditary essential tremor
- Author
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Novelletto, A., Gulli, R., Ciotti, P., Vitale, C., Malaspina, P., Blasi, P., Pippucci, T., Seri, M., Cozzolino, A., Bilo, L., Abbruzzese, G., Martinelli, P., Bellone, E., Barone, P., and Mandich, P.
- Published
- 2011
- Full Text
- View/download PDF
12. Predictive testing for Huntington’s disease: ten years’ experience in two Italian centres
- Author
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Mandich, P., Jacopini, G., Di Maria, E., Sabbadini, G., Chimirri, F., Bellone, E., Novelletto, A., Ajmar, F., and Frontali, M.
- Published
- 1998
- Full Text
- View/download PDF
13. DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients
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Vitale, C., Gulli, R., Ciotti, P., Scaglione, C., Bellone, E., Avanzino, L., Lantieri, F., Abbruzzese, G., Martinelli, P., Barone, P., and Mandich, P.
- Published
- 2008
14. Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients
- Author
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Origone, P, Geroldi, A, Lamp, M, Sanguineri, F, Caponnetto, C, Cabona, C, Gotta, F, Trevisan, L, Bellone, E, Manganelli, F, Devigili, G, Mandich, P., Origone, Paola, Geroldi, Alessandro, Lamp, Merit, Sanguineri, Francesca, Caponnetto, Claudia, Cabona, Corrado, Gotta, Fabio, Trevisan, Lucia, Bellone, Emilia, Manganelli, Fiore, Devigili, Grazia, and Mandich, Paola
- Subjects
Neurology ,MAPT ,Next-generation sequencing ,Amyotrophic lateral sclerosis, MAPT, Next-generation sequencing ,Neurology (clinical) ,Amyotrophic lateral sclerosis ,Amyotrophic lateral sclerosi - Published
- 2019
15. An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
- Author
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Bellone, E, Balestra, P, Ribizzi, G, Schenone, A, Zocchi, G, Di Maria, E, Ajmar, F, and Mandich, P
- Published
- 2006
16. Homozygous hypertrophic hereditary motor and sensory neuropathies
- Author
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Sghirlanzoni A., Pareyson D., Marazzi R., Cavaletti G., Bellone E., Mandich P., Balestrini M. R., and Riva D.
- Published
- 1994
- Full Text
- View/download PDF
17. ELECTROPHYSIOLOGICAL COMPARISON BETWEEN CMT1A AND CMT1 PATIENTS WITH AUTOSOMAL DOMINANT INHERITANCE AND WITHOUT MOLECULAR DIAGNOSIS
- Author
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Manganelli, F, Bellone, E, and Santoro, L
- Published
- 2005
18. Models in the history of physics
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Bellone, E. and Bruzzaniti, G.
- Published
- 1992
- Full Text
- View/download PDF
19. Von Hippel-Lindau (VHL) Gene Analysis in Italian Families with VHL Disease
- Author
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Montera, M., primary, Bellone, E., additional, Ajmar, F., additional, and Mandich, P., additional
- Published
- 1997
- Full Text
- View/download PDF
20. The Discovery by Galileo of Jupiter’s Moons
- Author
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Bellone, E., primary
- Published
- 1997
- Full Text
- View/download PDF
21. Clinical and genetic study of essential tremor in the Italian population
- Author
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Abbruzzese, G., Pigullo, S., Di Maria, E., Martinelli, P., Barone, P., Marchese, R., Scaglione, C., Assini, A., Lucetti, C., Berardelli, A., Calzetti, S., Bellone, E., Ajmar, F., and Mandich, P.
- Published
- 2001
- Full Text
- View/download PDF
22. Forensic Applications of Molecular Genetic Analysis: An Italian Collaborative Study on Paternity Testing by the Determination of Variable Number of Tandem Repeat DNA Polymorphisms
- Author
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Gasparini, P., Mandich, P., Novelli, G., Bellone, E., Sangiuolo, F., De Stefano, F., Potenza, L., Trabetti, E., Marigo, M., Pignatti, P.F., Dallapiccola, B., and Ajmar, F.
- Published
- 1991
23. Prognostic Impact of Diabetes and Prediabetes on Survival Outcomes in Patients With Chronic Heart Failure: A Post‐Hoc Analysis of the GISSI‐HF (Gruppo Italiano per lo Studio della Sopravvivenza nella Insufficienza Cardiaca‐Heart Failure) Trial
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Dauriz, Marco, primary, Targher, Giovanni, additional, Temporelli, Pier Luigi, additional, Lucci, Donata, additional, Gonzini, Lucio, additional, Nicolosi, Gian Luigi, additional, Marchioli, Roberto, additional, Tognoni, Gianni, additional, Latini, Roberto, additional, Cosmi, Franco, additional, Tavazzi, Luigi, additional, Maggioni, Aldo Pietro, additional, Barlera, Simona, additional, Franzosi, Maria Grazia, additional, Maggioni, Aldo P., additional, Porcu, Maurizio, additional, Yusuf, Salim, additional, Camerini, Fulvio, additional, Cohn, Jay N., additional, Decarli, Adriano, additional, Pitt, Bertram, additional, Sleight, Peter, additional, Poole‐Wilson, Philip A., additional, Geraci, Enrico, additional, Scherillo, Marino, additional, Fabbri, Gianna, additional, Bartolomei, Barbara, additional, Bertoli, Daniele, additional, Cobelli, Franco, additional, Fresco, Claudio, additional, Ledda, Antonietta, additional, Levantesi, Giacomo, additional, Opasich, Cristina, additional, Rusconi, Franco, additional, Sinagra, Gianfranco, additional, Turazza, Fabio, additional, Volpi, Alberto, additional, Ceseri, Martina, additional, Alongi, Gianluca, additional, Atzori, Antonio, additional, Bambi, Filippo, additional, Bastarolo, Desiree, additional, Bianchini, Francesca, additional, Cangioli, Iacopo, additional, Canu, Vittoriana, additional, Caporusso, Concetta, additional, Cenni, Gabriele, additional, Cintelli, Laura, additional, Cocchio, Michele, additional, Confente, Alessia, additional, Fenicia, Eva, additional, Friso, Giorgio, additional, Gianfriddo, Marco, additional, Grilli, Gianluca, additional, Lazzaro, Beatrice, additional, Lonardo, Giuseppe, additional, Luise, Alessia, additional, Nota, Rachele, additional, Orlando, Mariaelena, additional, Petrolo, Rosaria, additional, Pierattini, Chiara, additional, Pierota, Valeria, additional, Provenzani, Alessandro, additional, Quartuccio, Velia, additional, Ragno, Anna, additional, Serio, Chiara, additional, Spolaor, Alvise, additional, Tafi, Arianna, additional, Tellaroli, Elisa, additional, Ghio, Stefano, additional, Ghizzardi, Elisa, additional, Masson, Serge, additional, Crociati, Lella, additional, La Rovere, Maria Teresa, additional, Corrà, Ugo, additional, Finzi, Andrea, additional, Gorini, Marco, additional, Milani, Valentina, additional, Orsini, Giampietro, additional, Bianchini, Elisa, additional, Cabiddu, Silvia, additional, Cangioli, Ilaria, additional, Cipressa, Laura, additional, Cipressa, Maria Lucia, additional, Di Bitetto, Giuseppina, additional, Ferri, Barbara, additional, Galbiati, Luisa, additional, Lorimer, Andrea, additional, Pera, Carla, additional, Priami, Paola, additional, Vasamì, Antonella, additional, Moccetti, T., additional, Rossi, M.G., additional, Pasotti, E., additional, Vaghi, F., additional, Roncarolo, P., additional, Zunino, M.T., additional, Matta, F., additional, Perinetto, E. Actis, additional, Gaita, F., additional, Azzaro, G., additional, Zanetta, M., additional, Paino, A.M., additional, Parravicini, U., additional, Vegis, D., additional, Conte, R., additional, Ferraro, P., additional, De Bernardi, A., additional, Morelloni, S., additional, Fagnani, M., additional, Lucchina, P. Greco, additional, Montagna, L., additional, Bellone, E., additional, Sappè, D., additional, Ferraro, F., additional, Delucchi, M., additional, Reynaud, S.G., additional, Dore, M., additional, La Brocca, A., additional, Massobrio, N., additional, Bo, L., additional, Trinchero, R., additional, Imazio, M., additional, Brocchi, G., additional, Nejrotti, A., additional, Rissone, L., additional, Gabasio, S., additional, Zocchi, C., additional, Randazzo, S., additional, Crenna, A., additional, Giannuzzi, P., additional, Bonanomi, E., additional, Mezzani, A., additional, De Marchi, M., additional, Begliuomini, G., additional, Gianonatti, C.A., additional, Gavazzi, A., additional, Grosu, A., additional, Dei Cas, L., additional, Nodari, S., additional, Garyfallidis, P., additional, Bertoletti, A., additional, Bonifazi, C., additional, Arisi, S., additional, Mascaro, F., additional, Fraccarollo, M., additional, Dell'Orto, S., additional, Sfolcini, M., additional, Bortolini, F., additional, Raccagni, D., additional, Turelli, A., additional, Santarone, M., additional, Miglierina, E., additional, Sormani, L., additional, Jemoli, R., additional, Tettamanti, F., additional, Pirelli, S., additional, Bianchi, C., additional, Verde, S., additional, Mariani, M., additional, Ziacchi, V., additional, Ferrazza, A., additional, Russo, A., additional, Bortolotti, M., additional, Pasini, G.F., additional, Volpi, A., additional, Jones, K.N., additional, Cuzzucrea, D., additional, Gullace, G., additional, Carbone, C., additional, Granata, A., additional, De Servi, S., additional, Del Rosso, G., additional, Inserra, C., additional, Renaldini, E., additional, Zappa, C., additional, Moretti, M., additional, Zanini, R., additional, Ferrari, M., additional, Moroni, E., additional, Cei, A., additional, Lissi, C., additional, Dovico, E., additional, Fiorentini, C., additional, Palermo, P., additional, Brusoni, B., additional, Negrini, M., additional, Heyman, J., additional, Danzi, G.B., additional, Finzi, A., additional, Frigerio, M., additional, Turazza, F., additional, Beretta, L., additional, Sachero, A., additional, Casazza, F., additional, Squadroni, L., additional, Lombardi, F., additional, Marano, L., additional, Margonato, A., additional, Fragasso, G., additional, Febo, O.C., additional, Aiolfi, E., additional, Olmetti, F., additional, Grieco, A., additional, Antonazzo, V., additional, Specchia, G., additional, Mortara, A., additional, Robustelli, F., additional, Songini, M.G., additional, Schweiger, C., additional, Frisinghelli, A., additional, Palvarini, M., additional, Campana, C., additional, Scelsi, L., additional, Ajmone Marsan, N., additional, Cobelli, F., additional, Gualco, A., additional, Opasich, C., additional, De Feo, S., additional, Mazzucco, R., additional, Iannone, M.A., additional, Diaco, T., additional, Zaniboni, D., additional, Milanesi, G., additional, Nassiacos, D., additional, Meloni, S., additional, Giani, P., additional, Nicoli, T., additional, Malinverni, C., additional, Gusmini, A., additional, Pozzoni, L., additional, Bisiani, G., additional, Margaroli, P., additional, Schizzarotto, A., additional, Daverio, A., additional, Occhi, G., additional, Partesana, N., additional, Bandini, P., additional, Rosella, M.G., additional, Giustiniani, S., additional, Cucchi, G., additional, Pedretti, R., additional, Raimondo, R., additional, Vaninetti, R., additional, Fedele, A., additional, Ghezzi, I., additional, Rezzonico, E., additional, Salerno Uriarte, J.A., additional, Morandi, F., additional, Salvucci, F., additional, Valenti, C., additional, Graziano, G., additional, Romanò, M., additional, Cimminiello, C., additional, Mangone, I., additional, Lombardo, M., additional, Quorso, P., additional, Marinoni, G., additional, Breghi, M., additional, Erckert, M., additional, Dienstl, A., additional, Mirante Marini, G., additional, Stefenelli, C., additional, Cioffi, G., additional, Buczkowska, E., additional, Bonanome, A., additional, Bazzanini, F., additional, Parissenti, L., additional, Serafini, C., additional, Catania, G., additional, Tarantini, L., additional, Rigatelli, G., additional, Boni, S., additional, Pasini, A., additional, Masini, E., additional, Zampiero, A.A., additional, Zanchetta, M., additional, Franceschetto, L., additional, Delise, P., additional, Marcon, C., additional, Sacchetta, A., additional, Borgese, L., additional, Artusi, L., additional, Casolino, P., additional, Corbara, F., additional, Banzato, A., additional, Barbiero, M., additional, Aldegheri, M.P., additional, Bazzucco, R., additional, Crivellenti, G., additional, Raviele, A., additional, Zanella, C., additional, Pascotto, P., additional, Sarto, P., additional, Milan, S., additional, Barbieri, E., additional, Girardi, P., additional, Dalla Villa, W., additional, Dalle Mule, J., additional, Di Sipio, M.L., additional, Cazzin, R., additional, Milan, D., additional, Zonzin, P., additional, Carraro, M., additional, Rossi, R., additional, Carbonieri, E., additional, Rossi, I., additional, Stritoni, P., additional, Meneghetti, P., additional, Risica, G., additional, Tenderini, P.L., additional, Vassanelli, C., additional, Zanolla, L., additional, Perini, G., additional, Brighetti, G., additional, Chiozza, R., additional, Giuliano, G., additional, Gortan, R., additional, Cesanelli, R., additional, Nicolosi, G.L., additional, Piazza, R., additional, Mos, L., additional, Vriz, O., additional, Pavan, D., additional, Pascottini, G., additional, Alberti, E., additional, Werren, M., additional, Solinas, L., additional, Sinagra, G., additional, Longaro, F., additional, Fioretti, P., additional, Albanese, M.C., additional, Miani, D., additional, Gianrossi, R., additional, Pende, A., additional, Rubartelli, P., additional, Magaia, O., additional, Domenicucci, S., additional, Caruso, D., additional, Faraguti, A.S., additional, Magliani, L., additional, Miccoli, F., additional, Guglielmino, G., additional, Bertoli, D., additional, Cantarelli, A., additional, Orlandi, S., additional, Vallebona, A., additional, Pozzati, A., additional, Brega, G., additional, Pancaldi, L.G., additional, Vandelli, R., additional, Urbinati, S., additional, Poci, M.G., additional, Zoli, M., additional, Costa, G.M., additional, Guiducci, U., additional, Zobbi, G., additional, Tartagni, F., additional, Tisselli, A., additional, Gentili, A., additional, Pieri, P., additional, Cagnetta, E., additional, Bendinelli, S., additional, Barbieri, A., additional, Conti, R., additional, Ferrari, R., additional, Merlini, F., additional, Fucili, A., additional, Moruzzi, P., additional, Buia, E., additional, Galvani, M., additional, Ferrini, D., additional, Baggioni, G., additional, Yiannacopulu, P., additional, Canè, G., additional, Bonfiglioli, A., additional, Zandomeneghi, R., additional, Brugioni, L., additional, Giannini, A., additional, Di Ruvo, R., additional, Giuliani, M., additional, Rusconi, L., additional, Del Corso, P., additional, Piovaccari, G., additional, Bologna, F., additional, Venturi, P., additional, Melandri, F., additional, Bagni, E., additional, Bolognese, L., additional, Perticucci, R., additional, Zuppiroli, A., additional, Nannini, M., additional, Consoli, N., additional, Petrone, P., additional, Pipitò, C., additional, Colombi, L., additional, Bernardi, D., additional, Mariani, P.R., additional, Testa, R., additional, Mazzinghi, F., additional, Cosmi, F., additional, Cosmi, D., additional, Zipoli, A., additional, Cecchi, A., additional, Castelli, G., additional, Ciaccheri, M., additional, Mori, F., additional, Pieri, F., additional, Valoti, P., additional, Chiarantini, D., additional, Santoro, G.M., additional, Minneci, C., additional, Marchi, F., additional, Milli, M., additional, Zambaldi, G., additional, Brandinelli Geri, A.A., additional, Cipriani, M., additional, Alessandri, M., additional, Severi, S., additional, Stefanelli, S., additional, Comella, A., additional, Poddighe, R., additional, Digiorgio, A., additional, Carluccio, M., additional, Berti, S., additional, Rizza, A., additional, Bonatti, V., additional, Molendi, V., additional, Brancato, A., additional, D'Aprile, N., additional, Giappichini, G., additional, Del Vecchio, S., additional, Mantini, G., additional, De Tommasi, F., additional, Meucci, G., additional, Cordoni, M., additional, Bechi, S., additional, Barsotti, L., additional, Baldini, P., additional, Romei, M., additional, Scopelliti, G., additional, Lauri, G., additional, Pestelli, F., additional, Furiozzi, F., additional, Cocchieri, M., additional, Severini, D., additional, Patriarchi, F., additional, Chiocchi, P., additional, Buccolieri, M., additional, Martinelli, S., additional, Wee, A., additional, Angelici, F., additional, Bernardinangeli, M., additional, Proietti, G., additional, Biscottini, B., additional, Panciarola, R., additional, Marinacci, L., additional, Perna, G.P., additional, Gabrielli, D., additional, Moraca, A., additional, Moretti, L., additional, Partemi, L., additional, Gregori, G., additional, Amici, R., additional, Patteri, G., additional, Capone, P., additional, Savini, E., additional, Morgagni, G.L., additional, Paccaloni, L., additional, Pezzuoli, F., additional, Carincola, S., additional, Papi, S., additional, De Crescentini, S., additional, Gerardi, P., additional, Midi, P., additional, Gallenzi, E., additional, Pajes, G., additional, Mancone, C., additional, Di Spirito, V., additional, Di Gennaro, M., additional, Calcagno, S., additional, Toscano, S., additional, Antonicoli, S., additional, Carta, F., additional, Giorgi, G., additional, Comito, F., additional, Daniele, E., additional, Ciarla, O., additional, Gelfo, P.G., additional, Acquaviva, A., additional, Testa, D., additional, Testa, G., additional, Pagliaro, F.A., additional, Russo, F., additional, Vetta, F., additional, Marchese, I., additional, Di Sciascio, G., additional, D'Ambrosio, A., additional, Leggio, F., additional, Del Sindaco, D., additional, Lacchè, A., additional, Avallone, A., additional, Risa, M.P., additional, Azzolini, P., additional, Baldo, E., additional, Giovannini, E., additional, Pulignano, G., additional, Tondo, C., additional, Picchio, E., additional, ani, E., additional, Tanzi, P., additional, Pozzar, F., additional, Farnetti, F., additional, Azzarito, M., additional, Santini, M., additional, Varveri, A., additional, Ferraiuolo, G., additional, Valtorta, C., additional, Gaspardone, A., additional, Barbato, G., additional, Ceci, V., additional, Aspromonte, N., additional, Bellocci, F., additional, Colizzi, C., additional, Fedele, F., additional, Perez, F.I., additional, Galati, A., additional, Rossetti, A., additional, Mainella, A., additional, etta, D., additional, Matteucci, C., additional, Busi, G., additional, De Angelis, A., additional, Farina, G., additional, Granatelli, A., additional, Leone, F., additional, Frasca, F., additional, Di Giovambattista, R., additional, Castellani, G., additional, Massaro, G., additional, Mastrogiuseppe, G., additional, Vacri, A., additional, De Sanctis, F., additional, Cioli, M., additional, Di Luzio, S., additional, Napoletano, C., additional, Piccioni, L.L., additional, De Simone, G., additional, Ottaviano, A., additional, Mazza, V., additional, Spedaliere, C., additional, Staniscia, D., additional, Calgione, E., additional, De Marco, G., additional, Chiacchio, T., additional, Di Napoli, T., additional, Romanzi, S., additional, Salvatore, G., additional, Golino, P., additional, Palermo, A., additional, Mascia, F., additional, Vetrano, A., additional, Vinciguerra, A., additional, Caliendo, L., additional, Longobardi, R., additional, De Caro, G., additional, Di Nola, R., additional, Piemonte, F., additional, Prinzi, D., additional, De Rosa, P., additional, De Rosa, V., additional, Riello, F., additional, Capuano, V., additional, Vecchio, G., additional, Landi, M., additional, Amato, S., additional, Garofalo, M., additional, D'Avino, M., additional, Sensale, P., additional, Maiolica, O., additional, Santoro, R., additional, Caso, P., additional, Miceli, D., additional, Maurea, N., additional, Bianchi, U., additional, Crispo, C., additional, Chiariello, M., additional, Perrone Filardi, P., additional, Russo, L., additional, Capuano, N., additional, Ungaro, G., additional, Vergara, G., additional, Scafuro, F., additional, D'Angelo, G., additional, Campaniello, C., additional, Bottiglieri, P., additional, Volpe, A., additional, Battista, R., additional, De Risi, L., additional, Cardillo, G., additional, Sibilio, G., additional, Marino, A.P., additional, Silvestri, F., additional, Predotti, P., additional, Iervoglini, A., additional, De Matteis, C., additional, Sarnicola, P., additional, Matarazzo, M.M., additional, Baldi, S., additional, Iuliano, V., additional, Astarita, C., additional, Cuccaro, P., additional, Liguori, A., additional, Liguori, G., additional, Gregorio, G., additional, Petraglia, L., additional, Antonelli, G., additional, Amodio, G., additional, De Luca, I., additional, Traversa, D., additional, Franchini, G., additional, Lenti, M.L., additional, Cavallari, D., additional, D'Agostino, C., additional, Scalera, G., additional, Altamura, C.M., additional, Russo, M., additional, Mascolo, A.R., additional, Pettinati, G., additional, Ciricugno, S.A., additional, Scrutinio, D., additional, Passantino, A., additional, Mastrangelo, D., additional, Di Masi, A., additional, De Carne, R., additional, Cannone, M., additional, Dibiase, F., additional, Pensato, M., additional, Loliva, F., additional, Trapani, F., additional, Panettieri, I., additional, Leone, L., additional, Di Biase, M., additional, Carrone, M., additional, Gallone, V., additional, Cocco, F., additional, Costantini, M., additional, Tritto, C., additional, Cavalieri, F., additional, Stella, L., additional, Magliari, F., additional, Callerame, M., additional, De Giorgi, A., additional, Pellegrino, L., additional, Correra, M., additional, Portulano, V., additional, Nisi, G.L., additional, Grassi, G., additional, Cristallo, E., additional, De Laura, D., additional, Salerno, C., additional, Fanelli, R., additional, Villella, M., additional, Pede, S., additional, Renna, A., additional, De Lorenzi, E., additional, Urso, L., additional, Lenti, V., additional, Peluso, A., additional, Baldi, N., additional, Polimeni, G., additional, Palma, P., additional, Lauletta, R., additional, Tagliamonte, E., additional, Cirillo, T., additional, Silvestri, B., additional, Centonze, G., additional, D'Alessandro, B., additional, Truncellito, L., additional, Mecca, D., additional, Petruzzi, M.A., additional, Coviello, R.O.M., additional, Lopizzo, A., additional, telli, M., additional, Barbuzzi, S., additional, Gubelli, S., additional, Germinario, G., additional, Cosentino, N., additional, Mingrone, A., additional, Vico, R., additional, Borrello, G., additional, Mazza, M.L., additional, Cimino, R., additional, Galasso, D., additional, Cassadonte, F., additional, Talarico, U., additional, Perticone, F., additional, Cassano, S., additional, Catapano, F., additional, Calemme, S., additional, Feraco, E., additional, Cloro, C., additional, Misuraca, G., additional, Caporale, R., additional, Vigna, L., additional, Spagnuolo, V., additional, De Rosa, F., additional, Spadafora, G., additional, Zampaglione, G., additional, Russo, R., additional, Schipani, F.A., additional, Ferragina, A.F., additional, Stranieri, D., additional, Musca, G., additional, Carpino, C., additional, Bencardino, P., additional, Raimondo, F., additional, Musacchio, D., additional, Pulitanò, G., additional, Ruggeri, A., additional, Provenzano, A., additional, Salituri, S., additional, Musolino, M., additional, Calandruccio, S., additional, Marrari, A., additional, Tripodi, E., additional, Scali, R., additional, Anastasio, L., additional, Arone, A., additional, Aragona, P., additional, Donnangelo, L., additional, Comito, M.G.A., additional, Bilotta, F., additional, Vaccaro, I., additional, Rametta, R., additional, Ventura, V., additional, Bonvegna, A., additional, Alì, A., additional, Cinnirella, C., additional, Raineri, M., additional, Pompeo, F., additional, Cascio Ingurgio, N., additional, Carini, V., additional, Coco, R., additional, Giunta, G., additional, Leonardi, G., additional, Randazzo, V., additional, Di Blasi, V., additional, Tamburino, C., additional, Russo, G., additional, Mangiameli, S., additional, Cardillo, R., additional, Castelli, D., additional, Inserra, V., additional, Arena, A., additional, Gulizia, M.M., additional, Raciti, S., additional, Rapisarda, G., additional, Romano, R., additional, Prestifilippo, P., additional, Braschi, G.B., additional, Ledda, G., additional, Terrazzino, R., additional, De Caro, M., additional, Scilabra, G., additional, agnino, B., additional, Grassi, R., additional, Di Tano, G., additional, Scimone, G.F., additional, Vasquez, L., additional, Coppolino, C., additional, Casale, A., additional, Castelli, M., additional, D'Urso, G., additional, D'Antonio, E., additional, Lo Presti, L., additional, Badalamenti, E., additional, Conti, P., additional, Sanfilippo, N., additional, Cirrincione, V., additional, Cinà, M.T., additional, Cusimano, G., additional, Taormina, A., additional, Giuliano, P., additional, Bajardi, A., additional, Mandalà, V., additional, Canonico, A., additional, Geraci, G., additional, Sabella, F.P., additional, Enia, F., additional, Floresta, A.M., additional, Lo Cascio, I., additional, Gumina, D., additional, Cavallaro, A., additional, Piccione, G., additional, Ferrante, R., additional, Blandino, M., additional, Iudicello, M.S., additional, Mossuti, E., additional, Romano, G., additional, Lombardo, L., additional, Monastra, P., additional, Di Vincenzo, D., additional, Porcu, M., additional, Orrù, P., additional, Muscas, F., additional, Giardina, G., additional, Corda, M., additional, Locci, G., additional, Podda, A., additional, Ledda, M., additional, Siddi, P., additional, Lai, C., additional, Pili, G., additional, Mercuro, G., additional, Mureddu, G., additional, Ganau, A., additional, Meloni, G., additional, Poddighe, G., additional, and Sanna, G., additional
- Published
- 2017
- Full Text
- View/download PDF
24. Regular Wine Consumption in Chronic Heart Failure: Impact on Outcomes, Quality of Life, and Circulating Biomarkers
- Author
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Cosmi, Franco, Di Giulio, Paola, Masson, Serge, Finzi, Andrea, Marfisi, Rosa Maria, Cosmi, Deborah, Scarano, Marco, Tognoni, Gianni, Maggioni, Aldo P., Porcu, Maurizio, Boni, Silvana, Cutrupi, Giovanni, Tavazzi, Luigi, Latini, Roberto Tavazzi, L, Tognoni, G, Barlera, S, Franzosi, Mg, Latini, R, Lucci, D, Maggioni, Ap, Marchioli, R, Nicolosi, Gl, Porcu, M, Yusuf, S, Camerini, F, Cohn, Jn, Decarli, A, Pitt, B, Sleight, P, Poole-Wilson, Pa, Geraci, E, Scherillo, M, Fabbri, G, Bartolomei, B, Bertoli, D, Cobelli, F, Fresco, C, Ledda, A, Levantesi, G, Opasich, C, Rusconi, F, Sinagra, G, Turazza, F, Volpi, A, Ceseri, M, Alongi, G, Atzori, A, Bambi, F, Bastarolo, D, Bianchini, F, Cangioli, I, Canu, V, Caporusso, C, Cenni, G, Cintelli, L, Cocchio, M, Confente, A, Fenicia, E, Friso, G, Gianfriddo, M, Grilli, G, Lazzaro, B, Lonardo, G, Luise, A, Nota, R, Orlando, M, Petrolo, R, Pierattini, C, Pierota, V, Provenzani, A, Quartuccio, V, Ragno, A, Serio, C, Spolaor, A, Tafi, A, Tellaroli, E, Ghio, S, Ghizzardi, E, Masson, S, Crociati, L, Rovere, Mt, Corra, U, Di Giulio, P, Finzi, A, Gorini, M, Gonzini, L, Milani, V, Orsini, G, Bianchini, E, Cabiddu, S, Cipressa, L, Cipressa, Ml, Di Bitetto, G, Ferri, B, Galbiati, L, Lorimer, A, Pera, C, Priami, P, Rossi, Mg, Pasotti, E, Vaghi, F, Roncarolo, P, Zunino, Mt, Matta, F, Actis, E, Gaita, F, Azzaro, G, Zanetta, M, Paino, Am, Parravicini, U, Vegis, D, Conte, R, Ferraro, P, De Bernardi, A, Morelloni, S, Fagnani, M, Lucchina, Pg, Montagna, L, Bellone, E, Sappe, D, Ferraro, F, Delucchi, M, Reynaud, Sg, Dore, M, La, A, Massobrio, N, Bo, L, Trinchero, R, Imazio, M, Brocchi, G, Nejrotti, A, Rissone, L, Gabasio, S, Zocchi, C, Randazzo, S, Crenna, A, Giannuzzi, P, Bonanomi, E, Mezzani, A, De Marchi, M, Begliuomini, G, Gianonatti, Ca, Gavazzi, A, Grosu, A, Cas, Ld, Nodari, S, Garyfallidis, P, Bertoletti, A, Bonifazi, C, Arisi, S, Mascaro, F, Fraccarollo, M, Dell, S, Sfolcini, M, Bortolini, F, Raccagni, D, Turelli, A, Santarone, M, Miglierina, E, Sormani, L, Jemoli, R, Tettamanti, F, Pirelli, S, Bianchi, C, Verde, S, Mariani, M, Ziacchi, V, Ferrazza, A, Russo, A, Bortolotti, M, Pasini, Gf, Jones, Kn, Cuzzucrea, D, Gullace, G, Carbone, C, Granata, A, De, S, Del Rosso, G, Inserra, C, Renaldini, E, Zappa, C, Moretti, M, Zanini, R, Ferrari, M, Cei, A, Lissi, C, Dovico, E, Fiorentini, C, Palermo, P, Brusoni, B, Negrini, M, Heyman, J, Danzi, Gb, Frigerio, M, Beretta, L, Sachero, A, Casazza, F, Squadroni, L, Lombardi, F, Marano, L, Margonato, A, Fragasso, G, Febo, Oc, Aiolfi, E, Olmetti, F, Grieco, A, Antonazzo, V, Specchia, G, Mortara, A, Robustelli, F, Songini, Mg, Schweiger, C, Frisinghelli, A, Palvarini, M, Campana, C, Scelsi, L, Marsan, Na, Gualco, A, De Feo, S, Iannone, Ma, Diaco, T, Zaniboni, D, Milanesi, G, Nassiacos, D, Meloni, S, Giani, P, Nicoli, T, Malinverni, C, Gusmini, A, Pozzoni, L, Bisiani, G, Margaroli, P, Schizzarotto, A, Daverio, A, Morelli, E, Occhi, G, Partesana, N, Bandini, P, Rosella, Mg, Giustiniani, S, Cucchi, G, Pedretti, R, Raimondo, R, Vaninetti, R, Fedele, A, Ghezzi, I, Rezzonico, E, Salerno, Ja, Morandi, F, Salvucci, F, Valenti, C, Graziano, G, Romano, M, Cimminiello, C, Mangone, I, Lombardo, M, Quorso, P, Marinoni, G, Breghi, M, Erckert, M, Dienstl, A, Mirante, G, Stefenelli, C, Cioffi, G, Buczkowska, E, Bonanome, A, Bazzanini, F, Parissenti, L, Serafini, C, Catania, G, Tarantini, L, Rigatelli, G, Boni, S, Pasini, A, Masini, E, Zampiero, Aa, Zanchetta, M, Franceschetto, L, Delise, P, Marcon, C, Sacchetta, A, Borgese, L, Artusi, L, Casolino, P, Corbara, F, Banzato, A, Barbiero, M, Aldegheri, Mp, Bazzucco, R, Crivellenti, G, Raviele, A, Zanella, C, Pascotto, P, Sarto, P, Milan, S, Barbieri, E, Girardi, P, Dalla, W, Mule, Jd, Di Sipio ML, Cazzin, R, Milan, D, Zonzin, P, Carraro, M, Rossi, R, Carbonieri, E, Rossi, I, Stritoni, P, Meneghetti, P, Risica, G, Tenderini, Pl, Vassanelli, C, Zanolla, L, Perini, G, Brighetti, G, Chiozza, R, Giuliano, G, Baldin, Mg, Gortan, R, Cesanelli, R, Piazza, R, Mos, L, Vriz, O, Pavan, D, Pascottini, G, Alberti, E, Werren, M, Solinas, L, Longaro, F, Fioretti, P, Albanese, Mc, Miani, D, Gianrossi, R, Pende, A, Rubartelli, P, Magaia, O, Caruso, D, Faraguti, As, Magliani, L, Miccoli, F, Guglielmino, G, Cantarelli, A, Orlandi, S, Vallebona, A, Pozzati, A, Brega, G, Pancaldi, Lg, Vandelli, R, Urbinati, S, Poci, Mg, Zoli, M, Costa, Gm, Guiducci, U, Zobbi, G, Tartagni, F, Tisselli, A, Gentili, A, Pieri, P, Cagnetta, E, Bendinelli, S, Barbieri, A, Conti, R, Ferrari, R, Merlini, F, Fucili, A, Moruzzi, P, Buia, E, Galvani, M, Ferrini, D, Baggioni, G, Yiannacopulu, P, Canè, G, Bonfiglioli, A, Zandomeneghi, R, Brugioni, L, Giannini, A, Di, R, Giuliani, M, Rusconi, L, Del Corso, P, Piovaccari, G, Bologna, F, Venturi, P, Melandri, F, Bagni, E, Bolognese, L, Perticucci, R, Zuppiroli, A, Nannini, M, Consoli, N, Petrone, P, Pipitò, C, Colombi, L, Bernardi, D, Mariani, Pr, Testa, R, Mazzinghi, F, Cosmi, F, Cosmi, D, Zipoli, A, Cecchi, A, Castelli, G, Ciaccheri, M, Mori, F, Pieri, F, Valoti, P, Chiarantini, D, Santoro, Gm, Minneci, C, Marchi, F, Milli, M, Zambaldi, G, Geri, Aa, Cipriani, M, Alessandri, M, Severi, S, Stefanelli, S, Comella, A, Poddighe, R, Digiorgio, A, Carluccio, M, Berti, S, Rizza, A, Bonatti, V, Molendi, V, Brancato, A, D'Aprile, N, Giappichini, G, Del Vecchio, S, Mantini, G, De Tommasi, F, Meucci, G, Cordoni, M, Bechi, S, Barsotti, L, Baldini, P, Romei, M, Scopelliti, G, Lauri, G, Pestelli, F, Furiozzi, F, Cocchieri, M, Severini, D, Patriarchi, F, Chiocchi, P, Buccolieri, M, Martinelli, S, Wee, A, Angelici, F, Bernardinangeli, M, Proietti, G, Biscottini, B, Panciarola, R, Marinacci, L, Perna, Gp, Gabrielli, D, Moraca, A, Moretti, L, Partemi, L, Gregori, G, Amici, R, Patteri, G, Capone, P, Savini, E, Morgagni, Gl, Paccaloni, L, Pezzuoli, F, Carincola, S, Papi, S, De Crescentini, S, Gerardi, P, Midi, P, Gallenzi, E, Pajes, G, Mancone, C, Di, V, Di Gennaro, M, Calcagno, S, Toscano, S, Antonicoli, S, Carta, F, Giorgi, G, Comito, F, Daniele, E, Goretti, Sm, Ciarla, O, Gelfo, Pg, Acquaviva, A, Testa, D, Testa, G, Pagliaro, Fa, Russo, F, Vetta, F, Marchese, I, Di, G, D'Ambrosio, A, Leggio, F, Del Sindaco, D, Lacchè, A, Avallone, A, Risa, Mp, Azzolini, P, Baldo, E, Giovannini, E, Pulignano, G, Tondo, C, Picchio, E, Biffani, E, Tanzi, P, Pozzar, F, Farnetti, F, Azzarito, M, Santini, M, Varveri, A, Ferraiuolo, G, Valtorta, C, Gaspardone, A, Barbato, G, Ceci, V, Aspromonte, N, Bellocci, F, Colizzi, C, Fedele, F, Perez, Fi, Galati, A, Rossetti, A, Mainella, A, Ciuffetta, D, Matteucci, C, Busi, G, De, A, Farina, G, Granatelli, A, Leone, F, Frasca, F, Castellani, G, Massaro, G, Mastrogiuseppe, G, Vacri, A, De Sanctis, F, Cioli, M, Di Luzio, S, Napoletano, C, Piccioni, Ll, De Simone, G, Ottaviano, A, Mazza, V, Spedaliere, C, Staniscia, Td, Calgione, E, De Marco, G, Chiacchio, T, Di, T, Romanzi, S, Salvatore, G, Golino, P, Palermo, A, Mascia, F, Vetrano, A, Vinciguerra, A, Caliendo, L, Longobardi, R, De Caro, G, Di Nola, R, Piemonte, F, Prinzi, D, De Rosa, P, De, V, Riello, F, Capuano, V, Vecchio, G, Landi, M, Amato, S, Garofalo, M, D'Avino, M, Sensale, P, Maiolica, O, Santoro, R, Caso, P, Miceli, D, Maurea, N, Bianchi, U, Crispo, C, Chiariello, M, Filardi, Pp, Russo, L, Capuano, N, Ungaro, G, Vergara, G, Scafuro, F, D'Angelo, G, Campaniello, C, Bottiglieri, P, Volpe, A, Battista, R, De Risi, L, Cardillo, G, Sibilio, G, Marino, Ap, Silvestri, F, Predotti, P, Iervoglini, A, De Matteis, C, Sarnicola, P, Matarazzo, Mm, Baldi, S, Iuliano, V, Astarita, C, Cuccaro, P, Liguori, A, Liguori, G, Gregorio, G, Petraglia, L, Antonelli, G, Amodio, G, De Luca, I, Franchini, G, Lenti, Ml, Cavallari, D, D'Agostino, C, Scalera, G, Altamura, Cm, Russo, M, Mascolo, Ar, Pettinati, G, Ciricugno, Sa, Scrutinio, D, Passantino, A, Mastrangelo, D, Di Masi, A, De, R, Cannone, M, Dibiase, F, Pensato, M, Loliva, F, Trapani, F, Panettieri, I, Leone, L, Di, M, Carrone, M, Gallone, V, Cocco, F, Costantini, M, Tritto, C, Cavalieri, F, Stella, L, Magliari, F, Callerame, M, De Giorgi, A, Pellegrino, L, Correra, M, Portulano, V, Nisi, Gl, Grassi, G, Cristallo, E, De Laura, D, Salerno, C, Fanelli, R, Villella, M, Pede, S, Renna, A, De Lorenzi, E, Urso, L, Lenti, V, Peluso, A, Baldi, N, Polimeni, G, Palma, P, Lauletta, R, Tagliamonte, E, Cirillo, T, Centonze, G, D'Alessandro, B, Truncellito, L, Mecca, D, Petruzzi, Ma, Coviello, Ro, Lopizzo, A, Chiaffitelli, M, Barbuzzi, S, Gubelli, S, Germinario, G, Cosentino, N, Mingrone, A, Vico, R, Borrello, G, Mazza, Ml, Cimino, R, Galasso, D, Cassadonte, F, Talarico, U, Perticone, F, Cassano, S, Catapano, F, Calemme, S, Feraco, E, Cloro, C, Misuraca, G, Caporale, R, Vigna, L, Spagnuolo, V, De Rosa, F, Spadafora, G, Zampaglione, G, Russo, R, Schipani, Fa, Ferragina, Af, Stranieri, D, Musca, G, Carpino, C, Bencardino, P, Raimondo, F, Musacchio, D, Pulitano, G, Ruggeri, A, Provenzano, A, Salituri, S, Musolino, M, Calandruccio, S, Marrari, A, Tripodi, E, Scali, R, Anastasio, L, Arone, A, Aragona, P, Donnangelo, L, Comito, Mg, Bilotta, F, Vaccaro, I, Rametta, R, Ventura, V, Bonvegna, A, Alì, A, Cinnirella, C, Raineri, M, Pompeo, F, Ingurgio, Nc, Carini, V, Coco, R, Giunta, G, Leonardi, G, Randazzo, V, Di Blasi, V, Tamburino, C, Russo, G, Mangiameli, S, Cardillo, R, Castelli, D, Inserra, V, Arena, A, Gulizia, Mm, Raciti, S, Rapisarda, G, Romano, R, Prestifilippo, P, Braschi, Gb, Ledda, G, Terrazzino, R, De Caro, M, Scilabra, G, Graffagnino, B, Grassi, R, Scimone, Gf, Vasquez, L, Coppolino, C, Casale, A, Castelli, M, D'Urso, G, D'Antonio, E, Presti, Ll, Badalamenti, E, Conti, P, Sanfilippo, N, Cirrincione, V, Cinà, Mt, Cusimano, G, Taormina, A, Giuliano, P, Bajardi, A, Mandala, V, Canonico, A, Geraci, G, Sabella, Fp, Enia, F, Floresta, Am, Cascio, Il, Gumina, D, Cavallaro, A, Piccione, G, Ferrante, R, Blandino, M, Iudicello, Ms, Mossuti, E, Romano, G, Lombardo, L, Monastra, P, Di Vincenzo, D, Orru, P, Muscas, F, Giardina, G, Corda, M, Locci, G, Podda, A, Ledda, M, Siddi, P, Lai, C, Pili, G, Mercuro, G, Mureddu, G, Ganau, A, Meloni, G, Poddighe, G, Sanna, G., Cosmi, Franco, Di Giulio, Paola, Masson, Serge, Finzi, Andrea, Marfisi, Rosa Maria, Cosmi, Deborah, Scarano, Marco, Tognoni, Gianni, Maggioni, Aldo P, Porcu, Maurizio, Boni, Silvana, Cutrupi, Giovanni, Tavazzi, Luigi, Latini, Roberto, on behalf of the GISSI-HF, Investigator, Margonato, Alberto, DI GIULIO, Paola, Maggioni, Aldo P., GISSI HF, Investigator, and Sinagra, Gianfranco
- Subjects
Male ,Health Status ,Left ,Wine ,Comorbidity ,Ventricular Function, Left ,Health Statu ,Quality of life ,Risk Factors ,Surveys and Questionnaires ,Prevalence ,Ventricular Function ,Surveys and Questionnaire ,Depression (differential diagnoses) ,Depression ,Medicine (all) ,Middle Aged ,Prognosis ,biological marker ,Italy ,Female ,Risk assessment ,Cardiology and Cardiovascular Medicine ,biological markers ,Human ,Cardiac function curve ,Vasculitis ,medicine.medical_specialty ,Vasculiti ,Alcohol Drinking ,Prognosi ,Lower risk ,Risk Assessment ,Internal medicine ,medicine ,Humans ,Protective Factor ,Aged ,Heart Failure ,business.industry ,Risk Factor ,Stroke Volume ,Biomarker ,quality of life ,wine ,aged ,alcohol drinking ,biomarkers ,chronic disease ,comorbidity ,depression ,female ,heart failure ,humans ,italy ,male ,middle aged ,prevalence ,prognosis ,protective factors ,risk assessment ,risk factors ,stroke volume ,surveys and questionnaires ,vasculitis ,ventricular function, left ,health status ,cardiology and cardiovascular medicine ,Biomarkers ,Chronic Disease ,Protective Factors ,Quality of Life ,medicine.disease ,Clinical trial ,Heart failure ,Physical therapy ,business - Abstract
Background— Moderate, regular alcohol consumption is generally associated with a lower risk of cardiovascular events but data in patients with chronic heart failure are scarce. We evaluated the relations between wine consumption, health status, circulating biomarkers, and clinical outcomes in a large Italian population of patients with chronic heart failure enrolled in a multicenter clinical trial. Methods and Results— A brief questionnaire on dietary habits was administered at baseline to 6973 patients enrolled in the Gruppo Italiano per lo Studio della Sopravvivenza nell’Insufficienza Cardiaca-Heart Failure (GISSI-HF) trial. The relations between wine consumption, fatal and nonfatal clinical end points, quality of life, symptoms of depression, and circulating biomarkers of cardiac function and inflammation (in subsets of patients) were evaluated with simple and multivariable-adjusted statistical models. Almost 56% of the patients reported drinking at least 1 glass of wine per day. After adjustment, clinical outcomes were not significantly different in the predefined 4 groups of wine consumption. However, patients with more frequent wine consumption had a significantly better perception of health status (Kansas City Cardiomyopathy Questionnaire score, adjusted P P =0.01), and lower plasma levels of biomarkers of vascular inflammation (osteoprotegerin and C-terminal proendothelin-1, adjusted P P =0.01) after adjusting for possible confounders. Conclusions— We show for the first time in a large cohort of patients with chronic heart failure that moderate wine consumption is associated with a better perceived and objective health status, lower prevalence of depression, and less vascular inflammation, but does not translate into more favorable clinical 4-year outcomes. Clinical Trial Registration— URL: http://www.clinicaltrials.gov . Unique identifier: NCT0033633.
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- 2015
25. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
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MANGANELLI, FIORE, PISCIOTTA, CHIARA, SANTORO, LUCIO, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, NOLANO, MARIA, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Capponi, S, Geroldi, A, Topa, A, Bellone, E, Suls, A, Mandich, P, Santoro, Lucio, and Nolano, Maria
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Nerve Tissue Proteins ,Biology ,Asymptomatic ,Charcot-Marie-Tooth Disease ,medicine ,Missense mutation ,Humans ,Family history ,Child ,Subclinical infection ,Aged ,Genes, Dominant ,Genetics ,medicine.diagnostic_test ,General Neuroscience ,Genetic Carrier Screening ,Middle Aged ,Phenotype ,Penetrance ,Pedigree ,Italy ,Skin biopsy ,Mutation (genetic algorithm) ,Mutation ,Female ,Neurology (clinical) ,Human medicine ,medicine.symptom - Abstract
We report the clinical, electrophysiological, and skin biopsy findings of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family with a novel heterozygous GDAP1 mutation. We observed a marked intra-familial phenotypic variability, in age at onset and disease severity which ranged from a typical CMT phenotype to an asymptomatic status. Electrophysiological study, consistent with an axonal sensory-motor neuropathy, confirmed a different degree of severity and disclosed minimal electrophysiological abnormalities also in the asymptomatic subjects. Skin biopsy findings showed a variable loss of large and small somatic nerve fibers. Molecular analysis identified a novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the GDAP1 autosomal dominant mutations underlie a pronounced phenotypic variability, mimicking the effects of reduced penetrance. Notably, electrophysiological study in this family allowed to reveal hidden positive family history and assess a dominant inheritance pattern, revealing subclinical neuropathy in asymptomatic mutation carriers.
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- 2012
26. A novel myelin protein zero mutation associated with Charcot-Marie-Tooth type II disease
- Author
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Di Maria, E., Cassandrini, D., Balestra, P., Manganelli, F., Santoro, L., Ajmar, F., Mandich, P., and Bellone, E.
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Human genetics -- Research ,Genetic disorders -- Research ,Charcot-Marie-Tooth disease -- Genetic aspects ,Myelin proteins -- Physiological aspects ,Biological sciences - Published
- 2001
27. The role for NMDA receptors in the pathogenesis of schizophrenia: no evidence that the NMDAR2B gene is associated with susceptibility to schizophrenia
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Gulli, R., Pioli, R., De Luca, A., Begni, S., Pasini, A., Spalletta, G., Bellone, E., Pizzuti, A., Novelli, G., Dallapiccola, B., Ajmar, F., Gennarelli, M., Mandich, P., and Di Maria, E.
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Methyl aspartate -- Physiological aspects ,Schizophrenia -- Genetic aspects ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
28. Erratum
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Mandich, P., Jacopini, G., Di Maria, E., Sabbadini, G., Abbruzzese, G., Chimirri, F., Bellone, E., Novelletto, A., Ajmar, F., and Frontali, M.
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- 1998
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- View/download PDF
29. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
- Author
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Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Grandis M, Bellone E., MANGANELLI, FIORE, Mandich, P, Fossa, P, Capponi, S, Geroldi, A, Acquaviva, M, Gulli, R, Ciotti, P, Manganelli, Fiore, Grandis, M, and Bellone, E.
- Published
- 2009
30. Nerve ultrasound in patients with CMT1C: Description of three cases
- Author
-
Luigetti, M., Sabatelli, M., Bellone, E., Fabrizi, Gian Maria, Padua, L., and Granata, G.
- Subjects
Charcot–Marie–Tooth type 1C ,nerve ultrasound ,cross sectional area ,patients ,Charcot-Marie-Tooth disease (CMT) ,CMT1C ,Settore MED/26 - NEUROLOGIA ,Nerve ultrasound ,Nerve conduction studies ,LITAF/SIMPLE - Published
- 2014
31. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population
- Author
-
Manganelli, F., Tozza, S., Pisciotta, C., Bellone, E., Iodice, R., Dubbioso, R., Maria Nolano, Geroldi, A., Capponi, A., Mandich, P., Santoro, L., Manganelli, Fiore, Stefano, Tozza, Pisciotta, Chiara, Emilia, Bellone, Iodice, Rosa, Maria, Nolano, Alessandro, Geroldi, Simona, Capponi, Paola, Mandich, Santoro, Lucio, and Nolano, Maria
- Published
- 2014
32. GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
- Author
-
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Schenone A, Bellone E, Minetti C., MANGANELLI, FIORE, SANTORO, LUCIO, Biancheri, R, Zara, F, Striano, P, Pedemonte, M, Cassandrini, D, Stringara, S, Manganelli, Fiore, Santoro, Lucio, Schenone, A, Bellone, E, and Minetti, C.
- Published
- 2006
33. A Novel mutat of melin protein zero associated with an axonal form of Charcot-Marie.Tooth disease
- Author
-
SANTORO, LUCIO, MANGANELLI, FIORE, DI MARIA E, BORDO D, CASSANDRINI D, AJMAR F, MANDICH P, BELLONE E., Santoro, Lucio, Manganelli, Fiore, DI MARIA, E, Bordo, D, Cassandrini, D, Ajmar, F, Mandich, P, and Bellone, E.
- Published
- 2004
34. No evidence of association between CAG expansions and essential tremor in a large cohort of italian patients
- Author
-
Pigullo, S, DI MARIA, E, Marchese, R, Assini, A, Bellone, E, Scaglione, C, Vitale, C, Bonuccelli, U, Barone, Paolo, Ajmar, F, Martinelli, P, Abbruzzese, G., Pigullo, S, DI MARIA, E, Marchese, R, Assini, A, Bellone, E, Scaglione, C, Vitale, C, Bonuccelli, U, Barone, Paolo, Ajmar, F, Martinelli, P, and Abbruzzese, G.
- Published
- 2001
35. LITAF/SIMPLE MUTATION ANALYSIS IN DOMINANT DEMYELINATING CHARCOT- MARIE-TOOTH DISEASE: A NOVEL MUTATION
- Author
-
Ciotti, P, Geroldi, A, Capponi, S, Massa, R, Padua, L, Pazzaglia, C, Gulli, R, Mandich, P, and Bellone, E
- Subjects
Settore MED/26 - Neurologia - Published
- 2012
36. Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study
- Author
-
Maggi G. 1, Monti Bragadin M. 2, 3, Padua L. 3, 4, Fiorina E. 2, Bellone E. 2, Grandis M. 2, Reni L. 2, Bennicelli A. 2, Grosso M. 2, Saporiti R. 5, Scorsone D. 5, Zuccarino R. 2, Crimi E. 5, Schenone A. 2, and 6
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Charcot-Marie-Tooth Disease ,Cardiopulmonary Effort Test ,Treadmill Training ,Pulmonary Functions ,nervous system diseases - Abstract
OBJECTIVE: : We evaluated the sensitivity of various rehabilitation and lung function scales to detect differences between people with Charcot-Marie-Tooth (CMT) disease and healthy controls. We also studied whether these measurements are sensitive to disclose changes in patients with CMT disease after rehabilitative treatment. DESIGN: : Eight patients with different types of CMT participated in the study. Data were gathered at baseline; at the end of the treadmill training, stretching, respiratory, and proprioceptive exercise (TreSPE) treatment period; and after a washout period of 6 mos. The following instruments were used for data collection: Medical Research Council scale for lower limb strength; Tinetti Balance Scale; Physical Performance Battery; ankle angle, oxygen consumption, and lung function tests; peak treadmill velocity and slope; time to walk 6 m; and CMT Neuropathy Score. The participants underwent TreSPE treatment twice every week for 8 wks. RESULTS: : All rehabilitative measures were significantly worse in subjects with CMT disease than in healthy controls. Lung function was always normal except for the maximum expiratory pressure and maximum inspiratory pressure. No dropouts or worsening in any of the different outcome measures were observed after TreSPE. The ankle angle and the time to walk 6 m were the only measures that significantly improved after treatment. CONCLUSIONS: : The rehabilitative outcome measures used in this protocol are useful in detecting clinical impairment in people with CMT disease. Lung function tests were confirmed to be minimally abnormal in patients with CMT disease. The TreSPE treatment, besides being safe and well tolerated, induced some training effects in CMT neuropathy, in the absence of lung function amelioration and effort tolerance. Follow-up showed that CMT patients should be treated at least twice every year because a regression of all outcome measures to the baseline state was found after a 6-mo washout period.
- Published
- 2011
37. Linkage exclusion in Italian families with hereditary essentialtremor
- Author
-
Novelletto, A, Gulli, R, Ciotti, P, Vitale, C, Malaspina, P, Blasi, P, Pippucci, T, Seri, M, Cozzolino, A, Bilo, L, Abbruzzese, G, Martinelli, P, Bellone, E, Barone, Paolo, and Mandich, P.
- Published
- 2011
38. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord
- Author
-
Pigullo, S, De Luca, A, Barone, P, Marchese, R, Bellone, E, Colosimo, A, Scaglione, C, Martinelli, P, Di Maria, E, Pizzuti, Antonio, Abbruzzese, G, Dallapiccola, B, Ajmar, F, and Mandich, P.
- Published
- 2004
39. Variations in the NMDA receptor subunit 2B gene (GRIN2B) and bipolar disorder: A case-control study
- Author
-
Di Maria, E, Gulli, R, Ducci, F, Carlini, M, Bianchi, C, Ciotti, P, Bellone, E, Gennarelli, Massimo, Rotondo, A, Ajmar, F, and Mandich, P.
- Published
- 2004
40. Contribution of copy number variations in CMT1X: a retrospective study
- Author
-
Capponi, S., primary, Geroldi, A., additional, Pezzini, I., additional, Gulli, R., additional, Ciotti, P., additional, Ursino, G., additional, Lamp, M., additional, Reni, L., additional, Schenone, A., additional, Grandis, M., additional, Mandich, P., additional, and Bellone, E., additional
- Published
- 2014
- Full Text
- View/download PDF
41. PERTINENT - PERindopril-Thrombosis, InflammatioN, endothelial dysfunction and neurohormonal activation trial: A sub-study of the EUROPA study
- Author
-
Ferrari, Roberto, Arbustini, E., Blann, A., Cokkinos, D., Kluft, C., de Maat, M. P. M., Tavazzi, L., Bertrand, R., Ferrari, R., Fox, K., Remme, W. J., Simoons, M. L., Christakos, S., Geleris, P., Gialafos, J., Kardaras, F., Karidis, K., Kelesides, C., Koliopolos, N., Pyrgakis, V., Stamatelopoulos, S., Stavridis, A., Syribeis, S., Vardas, P., Vassiliadis, J., Zacharoulis, A., Zobolos, S., Manolis, A., Giannetto, M., Azzolini, P., Bellone, E., Pela, G., Brunelli, C., Capponi, E., Casaccia, M., Ceci, V., Corsini, G., De Luca, I., De Servi, S., Guarnerio, M., Di Pasquale, G., Fiorentini, C., Giannuzzi, P., Giovannini, E., Sinagra, G. F., Pettinati, G., Polimeni, M. R., Santini, M., Tantalo, L., Vajola, S., Di Giacomo, U., Gaddi, O., Iacono, A., Riva, S., Cappucci, A., Marinoni, G. P., Inama, G., Antolini, R., Celegon, L., Sanguinetti, M., Cucchini, F., Renaldini, E., Giordano, A., Papi, S., Marzilli, M., Dalla Volta, S., Volterrani, M., Portaluppi, Francesco, Lorusso, R., Di Donato, M., Colombo, A., Branzi, A., Proto, C., Leghissa, R., Ferrera, R., Marques, A. L., Andrade, C. M. D., Urena, C. G., Salcedo, J. M. A., Garcia, P. A., Azcarate, J. A., Martinez, V. B., Coronado, J. L. B., Cortada, J. B., Barmejo, M. P., Calini, J. S. E., Horcajo, N. A., Guerrero, J. J. G., Lorente, J. L., Montero, J. M. M., Romero, P. M., Mayor, J. L. B., Lopez, F. N., Peiro, F. N., de Ros, J. O., Mas, J. O., Valderrama, J. C., Lopez, D. G., Sanz, A. S., Bonnin, S. J., Simarro, E., Belsue, F. V., Caimani, R. B., Aranda, V. L. G., Ligorit, A. D., Cocina, E. G., Miguel, C. M., and Sanpera, J. M. A.
- Published
- 2003
42. Essential tremor is not associated with alpha-synuclein gene haplotypes
- Author
-
Pigullo, S, Di Maria, E, Marchese, R, Bellone, E, Gulli, R, Scaglione, C, Battaglia, S, Barone, Paolo, Martinelli, P, Abbruzzese, G, Ajmar, F, and Mandich, P.
- Published
- 2003
43. The role for NMDA receptors in the pathogenesis of schizophrenia: no evidence that the NMDAR2B gene is associated with susceptibility to schizophrenia
- Author
-
Gulli, R, Pioli, R, De Luca, A, Begni, S, Pasini, A, Spalletta, G, Bellone, E, Pizzuti, A, Novelli, G, Dallapiccola, B, Ajmar, F, Gennarelli, Massimo, Mandich, P, and Di Maria, E.
- Published
- 2001
44. Clinical and genetic study of essential tremor in the Italianpopulation
- Author
-
Abbruzzese, G, Pigullo, S, Di Maria, E, Martinelli, P, Barone, Paolo, Marchese, R, Scaglione, C, Assini, A, Lucetti, C, Berardelli, A, Calzetti, S, Bellone, E, Ajmar, F, and Mandich, P.
- Published
- 2001
45. PREAMI: Perindopril and remodelling in elderly with acute myocardial infarction: Study rationale and design
- Author
-
Battaglia, A., Ferraro, L., Lo Monaco, M., Palumbo, A., Mariani, M., Biadi, O., Boccalatte, A., Polimeno, S., Rosa, V., Liguori, L., Cuomo, S., Boccanelli, A., Morosetti, P., D Angelo, G., Bottiglieri, P., Brunelli, C., Spallarossa, P., Rolandi, A., Rossettini, Pf, Campa, P., Francesco BARILLA', Biase, L., Biscosi, C., Zampino, D., Capponi, E., Buccolieri, M., Gattobigio, R., Capucci, A., Passerini, F., Piepoli, M., Castello, A., Chiariello, M., Betocchi, S., Ciampi, Q., Losi, M., Corsini, G., Melorio, S., Dalle Mule, J., Mazzella, M., Cristinziani, Gr, Mario, L., Luca, I., Fusco, F., Del Salvatore, B., Sorino, M., Delise, P., Mozzato, Mg, Bilardo, G., Coro, L., Fantinel, M., Zasso, A., Fedele, F., Di Donato, D., Romano, S., Pascale, F., Giasi, M., Ciarcia, L., Lizzardo, A., Mastursi, M., Giordano, A., Benigno, M., Zanelli, E., Campana, M., Giovannini, E., Lacche, A., Pulignano, G., Giuffrida, G., Montana, G., Licciardello, G., L Abbate, A., Carpeggiani, C., Morales, A., Leghissa, R., Mandorla, S., Del Pinto, M., Borgioni, C., Mininni, N., Petrillo, Me, Moretti, G., Bonaglia, M., Zoni, A., Piscicelli, C., Orlandi, M., Panciroli, C., Oddone, A., Caizzi, V., Tartarini, G., Lattanzi, F., Reisenhofer, B., Pascotto, P., Zanocco, A., Dabizzi, Rp, Bini, L., Mondanelli, D., Frascarelli, F., Pitscheider, W., Erlicher, A., Rauhe, W., Bonsante, E., Polimeni, M., Catananti, F., Guerrisi, G., Magnani, B., Rapezzi, C., Ferlito, M., Amati, S., Di Leo, L., Manzo, M., Baldi, C., Cristofaro, M., Citro, R., Raviele, A., Turiano, G., Zuin, G., Rengo, F., Furgi, G., Papa, A., Rotiroti, D., Rosato, G., Siano, F., Pagliuca, MR, Rovelli, G., Heyman, J., Locati, I., Sanguinetti, M., Tomassini, F., Mantovani, R., Sanna, A., Marras, L., Crabu, E., Locci, G., Moio, N., Scilla, C., Tavazzi, L., Magrini, G., Bersano, C., Laudisa, Ml, Trimarco, B., Argenziano, L., Silvestri, S., Valagussa, F., Ciro, E., Cantu, E., Trocino, G., Rossillo, A., Valagussa, L., Finocchi, G., Benvenuto, Gm, Bonanno, C., Ometto, R., Risica, G., Gualandi, G., Facchin, L., Tenderini, P., Nicolosi, Gl, Burelli, C., Macor, F., Bellone, E., Laiso, D., Carvalho, P., Peila, C., Fagiano, A., Gardiol, S., Ganci, B., Presutto, P., Fontanelli, A., Morgera, T., Scarpino, L., Barbuzzi, S., Capogrosso, V., Terrosu, Pf, Contini, Gm, Sabino, G., Pes, R., Uneddu, F., Mecca, D., Tommaso, I., Rusconi, C., Brunazzi, Mc, Codeluppi, P., Pasqualini, M., Gorni, R., Negrelli, M., Paparoni, S., Core, A., Pecce, P., Petrella, L., Zennaro, Rg, Garuti, W., Alfano, G., Bacca, F., Petrucci, G., Paci, Am, Bigalli, G., Mangiameli, S., Gulizia, M., Cardillo, R., Ferrari, G., Tettamanti, F., Butti, E., Picchione, N., Sulla, A., Stroder, P., Perna, Gp, Ricci, S., Generali, Ca, Adornato, E., Ghisio, A., Tidu, M., Ferrari, R., Mele, D., Cicchitelli, G., Merli, E., Russa, O., Azcarate, Jma, Gonzales, Pz, Vilchez, F., Alonso, Lfi, Montero, Jmm, Zarzosa, Cd, Martin, Es, Ros, Jo, Martinez, Mh, Palau, Vm, Carranza, Mst, Mayor, Djlb, Cocina, Eg, Valderrama, Jc, Jimenez, Rp, Pardo, Jam, Cortada, Jb, Lorente, Lj, Guerrero, Jjg, Martinez, A., Coronado, Jlb, Casado, Rs, Cendon, Aa, Cokkinos, D., Maounis, T., Karatasakis, G., Kremastinos, D., Iliodromitis, S., Karatzas, D., Georgiadis, M., Paraskevaidis, I., Toutouzas, P., Antoniadis, P., Angeli, C., Vadas, P., Kaleboubas, M., Stamatelopoulos, S., Nanas, I., Kanakakis, A., Dalianis, A., Zacharoulis, A., Fotiadis, I., Pyrgakis, V., Liata, O., Mazen, B., Kardaras, F., Kardara, D., Krokos, V., Sioras, H., Fousas, S., Stefanidis, A., Papadopoulos, G., Papadopoulos, C., Papagiannis, I., Karidas, I., Zobolos, S., Preami, Investigators, A., Battaglia, L., Ferraro, M. L., Monaco, A., Palumbo, M., Mariani, O., Biadi, A., Boccalatte, S., Polimeno, V. D., Rosa, L., Liguori, S., Cuomo, A., Boccanelli, P., Morosetti, G., D'Angelo, P., Bottiglieri, C., Brunelli, P., Spallarossa, A., Rolandi, P. F., Rossettini, P., Campa, F., Barilla, L. D., Biase, C., Biscosi, D., Zampino, E., Capponi, M., Buccolieri, R., Gattobigio, A., Capucci, F., Passerini, M., Piepoli, A., Castello, M., Chiariello, Betocchi, Sandro, Q., Ciampi, Losi, MARIA ANGELA, G., Corsini, S., Melorio, J. D., Mule, M., Mazzella, G. R., Cristinziani, L., Mario, I. D., Luca, F., Fusco, B. D., Salvatore, M., Sorino, P., Delise, M. G., Mozzato, G., Bilardo, L., Coro', M., Fantinel, A., Zasso, F., Fedele, D. D., Donato, S., Romano, F. D., Pascale, M., Giasi, L., Ciarcia, A., Lizzardo, M., Mastursi, A., Giordano, M., Benigno, E., Zanelli, M., Campana, E., Giovannini, A., Lacche, G., Pulignano, G., Giuffrida, G., Montana, G., Licciardello, A., L'Abbate, C., Carpeggiani, A., Morale, R., Leghissa, S., Mandorla, M. D., Pinto, C., Borgioni, N., Mininni, M. E., Petrillo, G., Moretti, M., Bonaglia, A., Zoni, C., Piscicelli, M., Orlandi, C., Panciroli, A., Oddone, V., Caizzi, G., Tartarini, F., Lattanzi, B., Reisenhofer, P., Pascotto, A., Zanocco, R. P., Dabizzi, L., Bini, D., Mondanelli, F., Frascarelli, W., Pitscheider, A., Erlicher, W., Rauhe, E., Bonsante, M., Polimeni, F., Catananti, G., Guerrisi, B., Magnani, C., Rapezzi, M., Ferlito, S., Amati, L. D., Leo, M., Manzo, C., Baldi, M. D., Cristofaro, R., Citro, A., Raviele, G., Turiano, G., Zuin, F., Rengo, G., Furgi, A., Papa, D., Rotiroti, G., Rosato, F., Siano, M. R., Pagliuca, G., Rovelli, J., Heyman, I., Locati, M., Sanguinetti, F., Tomassini, R., Mantovani, A., Sanna, L., Marra, E., Crabu, G., Locci, N., Moio, C., Scilla, L., Tavazzi, G., Magrini, C., Bersano, M. L., Laudisa, Trimarco, Bruno, L., Argenziano, S., Silvestri, F., Valagussa, E., Ciro, E., Cantu, G., Trocino, A., Rossillo, L., Valagussa, G., Finocchi, G. M., Benvenuto, C., Bonanno, R., Ometto, G., Risica, G., Gualandi, L., Facchin, P., Tenderini, G. L., Nicolosi, C., Burelli, F., Macor, E., Bellone, D., Laiso, P., Carvalho, C., Peila, A., Fagiano, S., Gardiol, B., Ganci, P., Presutto, A., Fontanelli, T., Morgera, L., Scarpino, S., Barbuzzi, V., Capogrosso, P. F., Terrosu, G. M., Contini, G., Sabino, R., Pe, F., Uneddu, D., Mecca, I. D., Tommaso, C., Rusconi, M. C., Brunazzi, P., Codeluppi, M., Pasqualini, R., Gorni, M., Negrelli, S., Paparoni, A., Core, P., Pecce, L., Petrella, R. G., Zennaro, W., Garuti, G., Alfano, F., Bacca, G., Petrucci, A. M., Paci, G., Bigalli, S., Mangiameli, M., Gulizia, R., Cardillo, G., Ferrari, F., Tettamanti, E., Butti, N., Picchione, A., Sulla, P., Stroder, G. P., Perna, S., Ricci, C. A., Generali, E., Adornato, A., Ghisio, M., Tidu, R., Ferrari, D., Mele, G., Cicchitelli, E., Merli, O., Russa, J. M., A., P. Z., Gonzale, F., Vilchez, L. F. I., J. M. M., C. D., Zarzosa, E. S., Martin, J. O., De, M. H., Martinez, V. M., Palau, M. S. T., D. J. L., E. G., Cocina, J. C., Valderrama, R. P., Jimenez, J. A., M., J. B., Cortada, L. J., Lorente, J. J., G., A., Martinez, J. L., B., R. S., Casado, A. A., Cendon, D., Cokkino, T., Maouni, G., Karatasaki, D., Kremastino, S., Iliodromiti, D., Karatza, M., Georgiadi, I., Paraskevaidi, P., Toutouza, P., Antoniadi, C., Angeli, P., Vada, M., Kalebouba, S., Stamatelopoulo, I., Nana, A., Kanakaki, A., Daliani, A., Zacharouli, I., Fotiadi, V., Pyrgaki, O., Liata, B., Mazen, F., Kardara, D., Kardara, V., Kroko, H., Siora, S., Fousa, A., Stefanidi, G., Papadopoulo, C., Papadopoulo, I., Papagianni, I., Karida, and S., Zobolos
- Subjects
Male ,Ventricular Remodeling ,Myocardial Infarction ,Angiotensin-Converting Enzyme Inhibitors ,Electrocardiography ,ace inhibitors ,elderly ,heart rate variability ,left ventricular remodeling ,myocardial infarction ,perindopril ,Double-Blind Method ,Echocardiography ,Research Design ,Perindopril ,Electrocardiography, Ambulatory ,Humans ,Female ,Aged - Abstract
Angiotensin-converting enzyme (ACE) inhibitors reduce mortality, the development of remodeling, left ventricular (LV) dysfunction, and ischemic events, both when administered alone as long-term treatment in patients with impaired LV function and/or heart failure (HF) and as short-term treatment, early after acute myocardial infarction (AMI) and/or HF. The few data available on the use of ACE inhibitors in the elderly after AMI are conflicting. Nothing is known about the effects of ACE inhibitors in elderly postinfarction patients with preserved LV function: these patients have a remarkable medium- to long-term mortality and HF incidence after infarction. The aim of this study is to evaluate, in patients with AMI agedor =65 years, the effects of Perindopril on the combined outcome of death, hospitalization for HF, and heart remodeling, considered to be aor =8% increase in LV end-diastolic volume (LVEDV). Secondary objectives include the same factors listed in the primary end points but considered separately. In addition, safety of the drug, ventricular remodeling, and adaptation are being evaluated. A total of 1100 patients with AMI (first episode or reinfarction), agedor =65 years, and preserved or only moderately depressed LV (LV ejection fractionor =40%), are to be enrolled and randomly assigned to treatment (8 mg for 12 months of Perindopril or placebo, in double-blind conditions). Clinical assessment is performed at fixed times, and periodic evaluations of (1) ventricular shape, dimensions, and function by quantitative 2-D echocardiography, and (2) heart rate variability and arrhythmias by ambulatory electrocardiographic monitoring are anticipated. The results and conclusions will be available by 2002 year.
- Published
- 2000
46. Identification of a novel noncoding nuclear RNA from the DiGeorge syndrome critical region at 22q11
- Author
-
Novelli, G., Pizzuti, A., Amati, F., Ratti, A., Mari, A., Fogh, I., eugenia conti, Bengala, M., Bordoni, R., Bellone, E., Mandich, P., Colosimo, A., Pandolfi, F., and Dallapiccola, B.
- Published
- 1997
47. Identificazione e caratterizzazione di un nuovo gene codificante per un RNA non-traducibile nella regione critica per la sindrome di DiGeorge
- Author
-
Amati, F, Mari, A, Conti, E, Bengala, M, Pizzuti, A, Ratti, A, Fogh, I, Bordoni, R, Bellone, E, Mandich, P, Colosimo, Alessia, Pandolfi, F, Novelli, G, and Dallapiccola, B.
- Published
- 1997
48. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
- Author
-
Nelis, E., Broeckhoven, C., Jonghe, P., Lofgren, A., Vandenberghe, A., Latour, P., Le Guern, E., Brice, A., Mostacciuolo, Ml, Schiavon, F., Francesc Palau, Bort, S., Upadhyaya, M., Rocchi, M., Archidiacono, N., Mandich, P., Bellone, E., Silander, K., Savontaus, Ml, Navon, R., Goldberg-Stern, H., Estivill, X., Volpini, V., Friedl, W., and Gal, A.
- Subjects
X Chromosome ,Charcot-Marie-Tooth Disease ,epidemiology/genetics, Chromosomes ,Human ,Pair 17, Connexins ,genetics, Europe, Gene Deletion, Gene Frequency, Genetic Testing, Hereditary Sensory and Motor Neuropathy ,epidemiology/genetics, Humans, Multigene Family, Mutation, Myelin P0 Protein ,genetics, Myelin Proteins ,genetics, X Chromosome ,Clinical description and delineation of genetic syndromes ,medicine.disease_cause ,Chromosomes ,Connexins ,Myelin ,Onderzoek naar de pathogenese van de hereditaire neuropathieen CMT1a en HNPP ,Gene Frequency ,Peripheral myelin protein 22 ,Gene duplication ,Genetics ,Medicine ,Humans ,Genetic Testing ,education ,Klinische beschrijving en moleculaire definiëring van genetische syndromen ,Gene ,Genetics (clinical) ,education.field_of_study ,Mutation ,epidemiology/genetics ,business.industry ,Pair 17 ,Myelin protein zero ,Chromosome ,Europe ,medicine.anatomical_structure ,Multigene Family ,Connexin 32 ,business ,Hereditary Sensory and Motor Neuropathy ,Myelin P0 Protein ,Pathogenesis of the hereditary neuropathies CMT1a and HNPP ,Gene Deletion ,Myelin Proteins ,Chromosomes, Human, Pair 17 - Abstract
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplication was present. In 84.0% of 156 unrelated HNPP patients, the 17p11.2 deletion was present. In the nonduplicated CMT1 patients, several different mutations were identified in the myelin genes PMP22, MPZ and Cx32.
- Published
- 1996
49. Identification of a 4 bp deletion (1560del4) in <tex>P_{0}$</tex> gene in a family with severe Charcot-Marie-Tooth disease
- Author
-
Bellone, E., Mandich, P., James, R., Nelis, Eva, Lamba, L.D., Van Broeckhoven, Christine, and Ajmar, F.
- Subjects
Human medicine - Published
- 1996
50. P4.15 A novel GDAP1 mutation in autosomal dominant Charcot-Marie-Tooth disease
- Author
-
Pisciotta, C., primary, Manganelli, F., additional, Iodice, R., additional, Dubbioso, R., additional, Bellone, E., additional, Geroldi, A., additional, and Santoro, L., additional
- Published
- 2011
- Full Text
- View/download PDF
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