IRIS

COCOZZA, SERGIO

COCOZZA, SERGIO  

DIPARTIMENTO DI MEDICINA MOLECOLARE E BIOTECNOLOGIE MEDICHE  

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Risultati 1 - 20 di 177 (tempo di esecuzione: 0.055 secondi).
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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
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
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.
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 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
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.
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; Santoro, Lucio; Monticelli, A; Cavalcanti, F; Caruso, G; 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
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 1.1 Articolo in rivista 1999 M., Cossee; A., Durr; M., Schmitt; N., Dahl; P., Trouillas; P., Allinson; M., Kostrzewa; A., Nivelon Chevallier; K. H., Gustavson; A., Kohlschutter; U., Muller; J. L., Mandel; A., Brice; M., Koenig; F., Cavalcanti; A., Tammaro; DE MICHELE, Giuseppe; Filla, Alessandro; Cocozza, Sergio; M., Labuda; L., Montermini; J., Poirier; M., Pandolfo
INTERGENERATIONAL INSTABILITY AND MARKED ANTICIPATION IN SCA-17. 2.1 Contributo in volume (Capitolo o Saggio) 2003 Maltecca, F; Filla, Alessandro; Castaldo, I; Coppola, G; Fragassi, NINA ANTONETTA; Carella, M; Bruni, A; Cocozza, Sergio; Casari, G; Servadio, A; DE MICHELE, Giuseppe
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
A novel thyroid transcript negatively regulated by TSH. 1.1 Articolo in rivista 1995 Pianese, Luigi; Porcellini, Antonio; Avvedimento, VITTORIO ENRICO; D'Esposito, Francesco; Feliciello, Antonio; Monticelli, A.; Musti, A. M.; Tortora, Giampaolo; Varrone, S.; Cocozza, Sergio
3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells. 1.1 Articolo in rivista 2003 Turano, Mimmo; Tammaro, A; DE BIASE, I; LO CASALE, Ms; Ruggiero, Giuseppina; Monticelli, A; Cocozza, Sergio; Pianese, L.
Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia 1.1 Articolo in rivista 2002 L., Pianese; A., Tammaro; Turano, Mimmo; I., DE BIASE; A., Monticelli; Cocozza, Sergio
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population. 1.1 Articolo in rivista 1994 L., Pianese; Cocozza, Sergio; G., Campanella; I., Castaldo; F., Cavalcanti; DE MICHELE, Giuseppe; Filla, Alessandro; A., Monticelli; M., Munaro; E., Redolfi
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. 1.1 Articolo in rivista 2009 Amato, Roberto; Pinelli, Michele; Monticelli, A.; Marino, D.; Miele, Gennaro; Cocozza, Sergio
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2. 1.1 Articolo in rivista 2005 Acquaviva, Fabio; DE BIASE, Irene; L., Nezi; Ruggiero, Giuseppina; F., Tatangelo; C., Pisano; A., Monticelli; Garbi, Corrado; Acquaviva, ANGELA MARIA; Cocozza, Sergio
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 1.1 Articolo in rivista 1996 Campuzano, V; Montermini, L; Moltò, Md; Pianese, L; Cossée, M; Cavalcanti, F; Monros, E; Rodius, F; Duclos, F; Monticelli, A; Zara, F; Cañizares, J; Koutnikova, H; Bidichandani, Si; Gellera, C; Brice, A; Trouillas, P; DE MICHELE, Giuseppe; Filla, Alessandro; De Frutos, R; Palau, F; Patel, Pi; Di Donato, S; Mandel, Jl; Cocozza, Sergio; Koenig, M; Pandolfo, M.
Eco RI RFLP in the human IGF II gene. 1.1 Articolo in rivista 1988 Cocozza, Sergio; Garofalo, S; Robledo, R; Monticelli, A; Conti, A; Chiariotti, Lorenzo; Frunzio, R; Bruni, Cb; Varrone, S.
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia. 1.1 Articolo in rivista 2009 Coppola, G.; Marmolino, D.; Wang, Q.; Rai, M.; Acquaviva, Fabio; Cocozza, Sergio; Pandolfo, M.; Geschwind, D. H.