Zobrazeno 1 - 10
of 411
pro vyhledávání: '"Di Fabio R"'
Autor:
Puca, F., Fodale, V., Randazzo, P., Fabbrini, D., Missineo, A., Bisbocci, M., Esposito, S., Nibbio, M., Amaudrut, J., Colaceci, F., Sasso, R., Scalabrì, F., Loponte, S., Alli, C., Pucci, V., Montalbetti, C., Di Fabio, R., Petrocchi, A., Carugo, A., Toniatti, C.
Publikováno v:
In European Journal of Cancer October 2022 174 Supplement 1:S26-S26
Publikováno v:
BAG. Journal of Basic and Applied Genetics, Vol 33, Iss 2, Pp 27-36 (2022)
Public attitudes about genetics appear to depend on the local context. We analyzed survey responses obtained in 2015 from 293 residents of Luján, a city in the province of Buenos Aires, Argentina, who self-assessed their knowledge about genetics and
Externí odkaz:
https://doaj.org/article/ba21a5684c8b4b008912237208a6e878
Autor:
Donati, D., Di Fabio, R.
Publikováno v:
In Pharmacochemistry Library 2000 31:239-245
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, 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, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, 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
Publikováno v:
Human Mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, 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, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, 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, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.
Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6ba3c03e72db209b2dcfa43f19a30e
http://hdl.handle.net/2108/39066
http://hdl.handle.net/2108/39066
Autor:
Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.
Publikováno v:
Brain, 138, 2847. Oxford University Press
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622b286198db315b48ed87569b5cafb2
https://dspace.library.uu.nl/handle/1874/332591
https://dspace.library.uu.nl/handle/1874/332591
Autor:
Casali C, Piccolo F, Marcotulli C, Santorelli F, Tessa A, Di Fabio R, D’Angelo MG, Serrao M, Pierelli F, MELONE, Mariarosa Anna Beatrice
Introduction: Hereditary spastic paraplegia (HSP) associated with SPAST mutations (SPG4) is the most frequent form of autosomal dominant HSP accounting approximately for 40% of reported cases. The phenotype associated with HSP due to mutation in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::fef28bb14990d7fae089d1f1d8f63d01
http://hdl.handle.net/11591/222742
http://hdl.handle.net/11591/222742
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.