IRIS

COCOZZA, SERGIO

COCOZZA, SERGIO  

DIPARTIMENTO DI MEDICINA MOLECOLARE E BIOTECNOLOGIE MEDICHE  

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Risultati 1 - 20 di 177 (tempo di esecuzione: 0.038 secondi).
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Methodological aspects of the assessment of gene-nutrient interactions at the population level 1.1 Articolo in rivista 2007 Cocozza, Sergio
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. 1.1 Articolo in rivista 2007 DE BIASE, I; Rasmussen, A; Monticelli, A; AL MAHDAWI, S; Pook, M; Cocozza, Sergio; Bidichandani, Si
Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients. 1.1 Articolo in rivista 2007 DE BIASE, I; Rasmussen, A; Endres, D; AL MAHDAWI, S; Monticelli, A; Cocozza, Sergio; Pook, M; Bidichandani, Si
Accuracy of clinical diagnostic criteria for Friedreich's ataxia. 1.1 Articolo in rivista 2000 Filla, Alessandro; DE MICHELE, Giuseppe; Coppola, G; Federico, A; Vita, G; Toscano, A; Uncini, A; Pisanelli, P; Barone, P; Scarano, V; Perretti, A; Cocozza, Sergio
Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. 1.1 Articolo in rivista 1995 Palau, F; DE MICHELE, Giuseppe; Vilchez, J; Pandolfo, M; Monrs, E; Cocozza, Sergio; Smeyers, P; LOPEZ ARLANDIS, J; Campanella, G; DI DONATO, S; Filla, Alessandro
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families 1.1 Articolo in rivista 2000 Filla, Alessandro; Mariotti, C; Caruso, G; Coppola, G; Cocozza, Sergio; Castaldo, I; Calabrese, O; Salvatore, Elena; DE MICHELE, Giuseppe; Riggio, Mc; Pareyson, D; Gellera, C; DI DONATO, S.
Triplet repeat instability correlates with dinucleotide instability in primary breast cancer. 1.1 Articolo in rivista 2007 Pizzi, C; DI MAIO, M; Daniele, S; Mastranzo, P; Spagnoletti, I; Limite, G; Pettinato, Guido; Monticelli, A; Cocozza, Sergio; Contegiacomo, A.
Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet expansion. 1.1 Articolo in rivista 1996 CAMPUZANO V., Monterminil; Molto', M. D.; Pianese, L.; Cossee, M.; Cavalcanti, F.; Monros, E; Rodius, F.; Duclos, F.; Monticelli, A.; Zara, F.; Canizares, J.; Koutnikova, H.; Bidichandani, S.; Gellera, C.; Brice, A.; Trouillas, P.; DE MICHELE, G.; Filla, A.; DE FRUTOS, R.; Palau, F.; Patel, P. I.; DI DONATO, S.; Mandel, J. L.; Cocozza, Sergio
Serum transferrin receptor levels in Friedreich's and other degenerative ataxias. 1.1 Articolo in rivista 2001 Scarano, V; DE CRISTOFARO, T; DE MICHELE, Giuseppe; Salvatore, Elena; DE BIASE, I; Monticelli, A; Filla, Alessandro; Cocozza, Sergio
Intergenerational instability and marked anticipation in SCA-17. 1.1 Articolo in rivista 2003 Maltecca, F; Filla, Alessandro; Castaldo, I; Coppola, G; Fragassi, Na; Carella, M; Bruni, A; Cocozza, Sergio; Casari, G; Servadio, A; DE MICHELE, Giuseppe
Polymorphism at the 5' end flanking region of the insulin gene is associated with reduced insulin secretion in healthy individuals 1.1 Articolo in rivista 1988 Cocozza, Sergio; Riccardi, Gabriele; Monticelli, A.; Capaldo, Brunella; Genovese, S.; Krogh, V.; Celentano, E.; Farinaro, Eduardo; Varrone, S; Avvedimento, VITTORIO ENRICO
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 1.1 Articolo in rivista 1998 DE MICHELE, Giuseppe; DE FUSCO, M; Cavalcanti, F; Filla, Alessandro; Marconi, R; Volpe, G; Monticelli, A; Ballabio, Andrea; Casari, G; Cocozza, Sergio
Influence of GAA expansion size and disease duration on Central Nervous System impairment in Friedreich's Ataxia. Contribution to the understanding of the pathophysiology of the disease 1.1 Articolo in rivista 2000 Santoro, L.; Perretti, ANNA CARMELA AGNESE; Lanzillo, B.; Coppola, G.; DE JOANNA, G.; Manganelli, F.; Cocozza, Sergio; DE MICHELE, Giuseppe; Filla, Alessandro; Caruso, G.
Spastic Paraplegia and OXOPHOS impairment caused by mutations in Paraplegin, a Nuclear-encoded mitochondrial metalloprotease 1.1 Articolo in rivista 1998 Casari, G.; DE FUSCO, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; DE MICHELE G., FILLA A.; Cocozza, Sergio; Ballabio, Andrea
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease 1.1 Articolo in rivista 1998 Casari, G; DE FUSCO, M; Ciarmatori, S; Zeviani, M; Mora, M; Fernandez, P; DE MICHELE, Giuseppe; Filla, Alessandro; Cocozza, Sergio; Marconi, R; Durr, A; Fontaine, B; Ballabio, Andrea
Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich’s ataxia. Contribution to the understanding of the pathophysiology of the disease 1.1 Articolo in rivista 2000 Santoro, L; Perretti, A; Lanzillo, B; Coppola, G; DE JOANNA, G; Manganelli, F; Cocozza, Sergio; DE MICHELE, Giuseppe; Filla, Alessandro; Caruso, G.
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 1.1 Articolo in rivista 2002 Pianese, L; Busino, L; DE BIASE, I; DE CRISTOFARO, T; LO CASALE, Ms; Giuliano, P; Monticelli, A; Turano, Mimmo; Criscuolo, C; Filla, Alessandro; Varrone, S; Cocozza, Sergio
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. 1.1 Articolo in rivista 1997 Montermini, L; Andermann, E; Labuda, M; Richter, A; Pandolfo, M; Cavalcanti, F; Pianese, L; Iodice, L; Farina, G; Monticelli, A; Turano, Mimmo; Filla, Alessandro; DE MICHELE, Giuseppe; Cocozza, Sergio
Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients 1.1 Articolo in rivista 1996 Perretti, ANNA CARMELA AGNESE; Santoro, L.; Lanzillo, B.; Filla, Alessandro; DE MICHELE, Giuseppe; Barbieri, F.; Martino, G.; Ragno, M.; Cocozza, Sergio; Caruso, G.
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 1.1 Articolo in rivista 2002 Pianese, L; Busino, L; DE BIASE, I; DE CRISTOFARO, T; LO CASALE, Ms; Giuliano, P; Turano, M; Criscuolo, C; Filla, Alessandro; Varrone, Stelio; Cocozza, Sergio