Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Boccone, L."'
Autor:
Manes, Marta, Benussi, Alberto, Alberici, Antonella, Di Gregorio, E, Boccone, L, Premi, Enrico, Mitro, N, Pasolini, Mp, Pani, C, Paghera, Barbara, Perani, Daniela, Orsi, L, Costanzi, C, Ferrero, M, Zoppo, A, Tempia, A, Caruso, D, Grassi, Mario, Padovani, Alessandro, Brusco, Alfredo, Borroni, Barbara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::08cfbcf74ac23f926a49b52e9d3b74ea
http://hdl.handle.net/11379/516499
http://hdl.handle.net/11379/516499
Autor:
Manes, M, Alberici, A, Di Gregorio, E, Boccone, L, Premi, E, Mitro, N, Pasolini, Maria Pia, Pani, C, Paghera, B, Perani, D, Orsi, Lorenzo, Costanzi, C, Ferrero, M, Zoppo, A, Tempia, F, Caruso, D, Grassi, M, Padovani, A, Brusco, Alessandro, Borroni, B.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3662::381f791669a1ab831b75342b56c514aa
http://hdl.handle.net/11379/501911
http://hdl.handle.net/11379/501911
Autor:
Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente
Publikováno v:
European Journal of Human Genetics, 21(10), 1074-1078. Nature Publishing Group
European journal of human genetics, 21(10), 1074-1078. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
European journal of human genetics, 21(10), 1074-1078. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a63fdbfe2fca03377de88ab3a84b19
http://hdl.handle.net/11392/2387959
http://hdl.handle.net/11392/2387959
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9381c34914cca088e498512c430cb4cd
Publikováno v:
SEGH 2010 International Conference and Workshops of the Society for Environmental Geochemistry and Healt on Environmental Quality and Human Healt, Galway (Irlanda), 2010
info:cnr-pdr/source/autori:Valera P., Zavattari P., Sanna E., Boccone L./congresso_nome:SEGH 2010 International Conference and Workshops of the Society for Environmental Geochemistry and Healt on Environmental Quality and Human Healt/congresso_luogo:Galway (Irlanda)/congresso_data:2010/anno:2010/pagina_da:/pagina_a:/intervallo_pagine
info:cnr-pdr/source/autori:Valera P., Zavattari P., Sanna E., Boccone L./congresso_nome:SEGH 2010 International Conference and Workshops of the Society for Environmental Geochemistry and Healt on Environmental Quality and Human Healt/congresso_luogo:Galway (Irlanda)/congresso_data:2010/anno:2010/pagina_da:/pagina_a:/intervallo_pagine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::5608759e1e2db1695f719692f69427df
http://www.cnr.it/prodotto/i/83224
http://www.cnr.it/prodotto/i/83224
Publikováno v:
Europe PubMed Central
The Cri du Chat Syndrome (CdCS) is one of the most common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50.000 live births. The following are the characteristic features of this syndrome: microcephaly, hyperte
Autor:
Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D?arrigo, S., Emma, F., Fazzi, E., Gallizzi, R., Gentile, M., Loncarevic, D., Mejaski-Bosnjak, V., Pantaleoni, C., Rigoli, L., Salpietro, C. D., Signorini, S., Stringini, G. R., Verloes, A., Zabloka, D., Dallapiccola, B., Gleeson, J. G., Valente, E. M., Zankl, A., Leventer, R., Smith, P. G., Janecke, A., D?hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M. A., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briuglia, S., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Giudice, E. D., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Uggetti, C., Battini, R., Giacomo, M. D., Cilio, M. R., Di Sabato, M. L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., M('e)garban('e), A., Sabolic Avramovska, V., De Jong, M. M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Y
Publikováno v:
Human Mutation, 30(2), E432-E442. Wiley-Liss Inc.
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5516a353ea15c6d875abcec34c7ef0e6
http://hdl.handle.net/11588/677358
http://hdl.handle.net/11588/677358
Autor:
Veneziano L. 1, Guida S. 1, Mantuano E. 1, Bernard P. 1, Tarantino P. 2, Boccone L. 3, Hisama FM. 4, Carrera P. 5, Jodice C. 6,7, Frontali M. 1
Publikováno v:
Journal of the neurological sciences 276 (2009): 31–37. doi:10.1016/j.jns.2008.08.030
info:cnr-pdr/source/autori:Veneziano L. 1; Guida S. 1; Mantuano E. 1;Bernard P. 1; Tarantino P. 2; Boccone L. 3; Hisama FM. 4; Carrera P. 5; Jodice C. 6,7; Frontali M. 1/titolo:Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2/doi:10.1016%2Fj.jns.2008.08.030/rivista:Journal of the neurological sciences/anno:2009/pagina_da:31/pagina_a:37/intervallo_pagine:31–37/volume:276
info:cnr-pdr/source/autori:Veneziano L. 1; Guida S. 1; Mantuano E. 1;Bernard P. 1; Tarantino P. 2; Boccone L. 3; Hisama FM. 4; Carrera P. 5; Jodice C. 6,7; Frontali M. 1/titolo:Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2/doi:10.1016%2Fj.jns.2008.08.030/rivista:Journal of the neurological sciences/anno:2009/pagina_da:31/pagina_a:37/intervallo_pagine:31–37/volume:276
The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::ce23c3da06f211dc2ccb0772dd3e23cf
http://www.cnr.it/prodotto/i/4835
http://www.cnr.it/prodotto/i/4835
Autor:
Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Marti, I, Quijano Roy, S, de Lonlay, P, Verloes A, A., Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Eugen Boltshauser, E, Hulya, H, Comu, S, Akcakus, M, Sahin, Y, Phadke, Sr, Melick, N, Mikati, M, Nicholl, D, Hurst, J, Hennekam, Rcm, Bernes, S, Sanchez, H, Clark, Ae, Wynshaw Boris, A, Donahue, C, Sherr, Eh, Barkovich, Aj, Hahn, D., Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh CA, Soul, Jmckanna, T, Joanne Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Amy Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Cruse, Rp, Lotzete, Swoboda, Kj, Viskochil, Dh, Valente, Em, Woods, Cg, Gleeson, Jg
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f67997970c24a4b253fb5a24caa916b
http://hdl.handle.net/11386/3949698
http://hdl.handle.net/11386/3949698