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Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Autor: DEL GIUDICE, ENNIO, Bianchi MC, Tosetti M, Varrone A, Romano A, Crisanti AF, Titomanlio L, Imperati F.

Publikováno v: Epileptic disorders : international epilepsy journal with videotape. 8(4)

Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::903e954a52a4a3e68794148645874bd3
https://pubmed.ncbi.nlm.nih.gov/17150443

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Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

Autor: Titomanlio L, Romano A, Imperati F, Borrelli M, Barletta V, Alvaro AD, Castaldo I, Santoro L, DEL GIUDICE, ENNIO, BRUNETTI PIERRI, NICOLA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::7f1046a01c677f8e93e38dc3d6e7f5f2
http://hdl.handle.net/11588/363033

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Valutazione dello sviluppo infantile: il ruolo del pediatra

Autor: Romano A, Imperati F, Crisanti AF, DEL GIUDICE, ENNIO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::fbee3f21da6c7ddd19cd29cc3aa98fe1
http://hdl.handle.net/11588/466091

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Autosomal dominant cerebellar vermis hypoplasia: evaluation of the possible role of EN2 and ZIC1 genes

Autor: DEL GIUDICE, ENNIO, Titomanlio L, BRUNETTI PIERRI, NICOLA, Imperati F, Santoro L, Barletta V, Romano A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::69a52833f259f05760e39c176ac0ae62
http://hdl.handle.net/11588/494384

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Tylor type focal cortical dysplasia is the epilepsy always resistant to medical treatment?

Autor: Del Giudice E, Bianchi M, Tosetti M, Varrone A, Romano A, Crisanti A, Titomanlio L, Imperati F.

Publikováno v: Epileptic disorders 245 (2006): 141–145.
info:cnr-pdr/source/autori:Del Giudice E; Bianchi M; Tosetti M; Varrone A; Romano A; Crisanti A; Titomanlio L; Imperati F./titolo:Tylor type focal cortical dysplasia is the epilepsy always resistant to medical treatment?/doi:/rivista:Epileptic disorders/anno:2006/pagina_da:141/pagina_a:145/intervallo_pagine:141–145/volume:245

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::98f77d83a9b78b77dd9a47c44c041f5b
https://publications.cnr.it/doc/13680

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Autor: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H.

Publikováno v: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous syst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ce4117a09b52e55c5f27f15a27823e

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