Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Cilio, MR"'
Autor:
Simmons R, Martinez AB, Barkovich J, Numis AL, Cilio MR, Glenn OA, Gano D, Rogers EE, Glass HC
Publikováno v:
PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
BACKGROUND: Although seizures in neonates are common and often due to acute brain injury, 10-15% are unprovoked from congenital brain malformations. A better understanding of the risk of neonatal-onset epilepsy by the type of brain malformation is es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5892441097544fca4cbe609fb9b3ebfe
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20460
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20460
Publikováno v:
Clinical Pharmacology: Advances and Applications, Vol 2012, Iss default, Pp 23-24 (2012)
Barrese V, Miceli F, Soldovieri MV, Ambrosino P, Iannotti FA, Cilio MR, Taglialatela M. Neuronal potassium channel openers in the management of epilepsy: role and potential of retigabine. Clinical Pharmacology: Advances and Applications. 2010;2:225
Externí odkaz:
https://doaj.org/article/4661cd22815e45a38a7a073d3b1ff685
Autor:
Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J
Publikováno v:
Wolking, S, May, P, Mei, D, Møller, R S, Balestrini, S, Helbig, K L, Altuzarra, C D, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, B A, Numis, A, Cilio, M R, Van Paesschen, W, Svendsen, L L, Oates, S, Hughes, E, Goyal, S, Brown, K, Sifuentes Saenz, M, Dorn, T, Muhle, H, Pagnamenta, A T, Vavoulis, D V, Knight, S J L, Taylor, J C, Canevini, M P, Darra, F, Gavrilova, R H, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, E W, Kluger, G J, Lowenstein, D H, Weckhuysen, S, Pal, D K, Helbig, I, Guerrini, R, Thomas, R H, Rees, M I, Lesca, G, Sisodiya, S M, Weber, Y G, Lal, D, Marini, C, Lerche, H & Schubert, J 2019, ' Clinical spectrum of STX1B-related epileptic disorders ', Neurology, vol. 92, no. 11, pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089
Neurology
Neurology
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS:
Autor:
Nobuta, H, Cilio, MR, Danhaive, O, Tsai, HH, Tupal, S, Chang, SM, Murnen, A, Kreitzer, F, Bravo, V, Czeisler, C, Gokozan, HN, Gygli, P, Bush, S, Weese-Mayer, DE, Conklin, B, Yee, SP, Huang, EJ, Gray, PA, Rowitch, D, Otero, JJ
Publikováno v:
Nobuta, H; Nobuta, H; Cilio, MR; Cilio, MR; Danhaive, O; Tsai, HH; et al.(2015). Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathologica. doi: 10.1007/s00401-015-1441-0. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3qc1s561
© 2015 The Author(s) Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c8f3c84de071508b718dc321714d504e
http://www.escholarship.org/uc/item/3qc1s561
http://www.escholarship.org/uc/item/3qc1s561
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
Autor:
Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, M, Zablocka, D, Kayserili, H, Al Gazali, L, Bertini, E, Boltshauser, E, D'Hooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rc, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, L, Romano, S, Salpietro, Cd, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, [International JSRD Study Group], Valente, Em, Gleeson, Jg, Smith, P, Leventer, R, Janecke, A, Van Coster, R, Dias, K, Moco, C, Moreira, A, Chong, Ak, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Martu, I, Quijano Roy, S, De Lonlay, P, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdotir, J, Ludvigsson, P, Magee, A, Lev, D, Michelson, M, Ben Zev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Boccone, L, Ruggieri, Martino, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Cardidi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Tortorella, G, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Lavercla, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Aqeel, A, De Jong MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Comu, S, Akcakus, M, Nicholl, D, Woods, Cg, Bennet, C, Hurst, J, Walsh, Ca, Bernes, S, Sanchez, H, Clark, Ae, Donahue, C, Hahn, J, Sanger, Td, Gallager, Te, Dobyns, Wb, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, 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, Swoboda, Kj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4731::29b1808833eda2cd10499a763567881a
http://hdl.handle.net/20.500.11769/55023
http://hdl.handle.net/20.500.11769/55023
Autor:
Matera, I, Bachetti, T, Puppo, F, DI DUCA, M, Moranti, F, Casiraghi, Gm, Cilio, Mr, Hennekam, R, Hofstra, R, Schober, Jg, Ravazzolo, Roberto, Ottonello, G, Ceccherini, I.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::2fd1cd2bc3c4a3cceeb61417f6726a67
https://hdl.handle.net/11567/210430
https://hdl.handle.net/11567/210430
Autor:
Avanzini, G, Canger, R, Dallabernardina, B, Vigevano, F, Aguglia, U, Albano, C, Antonini, L, Battaglia, S, Battino, D, Benna, P, Besana, D, Antonelli, C, Binelli, S, Biondi, R, Boniver, C, Buti, D, Canziani, F, Capovilla, G, Casara, G, Casazza, M, Cernibori, A, Chindemi, A, Cianchetti, C, Cilio, Mr, Coppola, G, Cremonte, M, Dagostino, V, Daniele, O, Demarco, P, Demaria, G, Dicosmo, F, Diperri, R, Durisotti, C, Elia, M, Fois, A, Fontana, E, Franceschetti, S, Gaggero, R, Galeone, D, Gallitto, Giuseppe, Gianelli, L, Rossi, Pg, Giubergia, S, Gobbi, G., Guarneri, B., La Selva, L., Lanzi, G., Laurienzo, P., Lenti, C., Lunardi, G., Magaudda, A., Mangano, S., Marchini, C., Mecarelli, O., Michelucci, R., Muscas, G. C., Musetti, L., Musolino, R., Mutani, R., Parmeggiani, A., Pascotto, A., Pasquinelli, A., Pelliccia, A., Perniola, T., Pisani, F., Porta, M., Radice, L., Ricci, G. F., Ricci, S., Romeo, A., Rozza, L., Rozzi, N., Santucci, M., Sardella, M., Sasso, E., Severi, S., Sgrò, V., Sofia, V., Specchio, L., Spreafico, R., Striano, S., Tassinari, C., Tiacci, C., Tiberti, A., Tinuper, P., Torelli, D., Tortorella, G., Valseriati, D., Veggiotti, P., Viani, F., Vignoli, A., Viri, M., Volpi, L., Zaccara, G., Zagnoni, P., Zambrino, A., Zappoli, R., Zucca, C., Zuddas, A., Bonardi, R., Jensen, P, Kwan, R., Teoh, N.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::8986779aa2e6157d782ec59b57c2bb18
http://hdl.handle.net/11570/1893051
http://hdl.handle.net/11570/1893051
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