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Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 1-gen-2016 Matricardi, S; Spalice, A; SALPIETRO DAMIANO, Vincenzo; DI ROSA, Gabriella; Balistreri, Mc; Grosso, S; Parisi, P; Elia, M; Striano, P; Accorsi, P; Cusmai, R; Specchio, N; Coppola, G; Savasta, S; Carotenuto, M; Tozzi, E; Ferrara, P; Ruggieri, M; Verrotti, A.
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 1-gen-2016 Mormina, Enricomaria; Briguglio, M; Morabito, R; Arrigo, A; Marino, Silvia; Di Rosa, Gabriella; Micalizzi, A; Valente, Em; Salpietro, V; Vinci, Sergio Lucio; Longo, Marcello; Granata, Francesca
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 1-gen-2019 Chelban, V(1)(2); Wilson, MP(3); Warman Chardon, J(4)(5)(6); Vandrovcova, J(1); Zanetti, MN(7); Zamba-Papanicolaou, E(8)(9); Efthymiou, S(1); Pope, S(10); Conte, MR(11); Abis, G(11); Liu, YT(12)(13)(14); Tribollet, E(1); Haridy, NA(1)(15); Botía, JA(16)(17); Ryten, M(16)(18); Nicolaou, P(8)(9); Minaidou, A(8)(9); Christodoulou, K(8)(9); Kernohan, KD(6)(19); Eaton, A(6); Osmond, M(6); Ito, Y(6); Bourque, P(4)(5); Jepson, JEC(7); Bello, O(7); Bremner, F(20); Cordivari, C(21); Reilly, MM(1); Foiani, M(21)(22); Heslegrave, A(22)(23); Zetterberg, H(22)(23)(24)(25); Heales, SJR(10); Wood, NW(1)(26); Rothman, JE(7)(27); Boycott, KM(6); Mills, PB(3); Clayton, PT(3); Houlden, H(1)(26); Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y; Khorassani, Me; Aguennouz, M; Groppa, S; Marinova Karashova, B; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Goraya, Js; Sultan, T; Mine, J; Avdjieva, D; Kathom, H; Tincheva, R; Banu, S; Pineda-Marfa, M; Veggiotti, P; Ferrari, Md; van den Maagdenberg, Amjm; Verrotti, A; Marseglia, G; Savasta, S; García-Silva, M; Ruiz, Am; Garavaglia, B; Borgione, E; Portaro, S; Sanchez, Bm; Boles, R; Papacostas, S; Vikelis, M; Rothman, J; Giunti, P; Houlden, H; Chelban, V; Salpietro, V; Oconnor, E; Efthymiou, S; Kullmann, D; Kaiyrzhanov, R; Sullivan, R; Khan, Am; Yau, Wy; Hostettler, I; Papanicolaou, Ez; Dardiotis, E; Maqbool, S; Ibrahim, S; Kirmani, S; Rana, Nn; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Mangano, S; Scuderi, C; Borgione, E; Morello, G; Stojkovic, T; Torti, E; Zollo, M; Heimer, G; Dauvilliers, Ya; Striano, P; Al-Khawaja, I; Al-Mutairi, F; Alkuraya, Fs; Sherifa, H; Rizig, M; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Oguntunde, O; Pchelina, S; Senkevich, K; Haridy, N; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Bourinaris, T; Xiromerisiou, G; Fidani, L; Spanaki, C; Tucci, A.
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