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Mostrati risultati da 41 a 60 di 86
Data di pubblicazione Titolo Autore(i) File
1-gen-2015 A functional 5HT2A receptor polymorphism (His452Tyr) and memory performances in Alzheimer's disease Guglielmi, Valeria; Bizzarro, Alessandra; Valenza, A; Lauria, Alessandra; Tiziano, Francesco Danilo; Lomastro, R; Masullo, Carlo
1-gen-2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; De Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez Camacho, A; Ulate Campos, A; Campistol, J; Giannotta, M; Moutard, M; Doummar, D; Hubsch Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nevsimalova, S; Nicole, S; Neville, B; Van Den Maagdenberg, Amjm; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A.
1-gen-2015 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands Finkel, R; Bertini, Enrico Silvio; Muntoni, F; Mercuri, Eugenio Maria; Chen, K; Kirschner, J; De Lemus, M; Hogrel, Jy; Khwaja, O; Main, M; Mazzone, E; Montes, J; Ramsey, D; Sejersen, T; Sumner, C; Swoboda, K; Tiziano, Francesco Danilo; Tseng, B; Van Der Pol, L; Villerot, C; Wirth, B; Witchen, A; Yeh, Ws; Zittersteijn, A.
1-gen-2015 Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R.
1-gen-2014 Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor Gasparotto, D; Rossi, S; Campagna, D; Scavina, P; Tiziano, Francesco Danilo; Marzotto, A; Toffolatti, L; Vitelli, Ce; Amini, M; Dei Tos, Ap; Maestro, R.
1-gen-2014 Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E.
1-gen-2014 Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy Cherry, Jj; Kobayashi, Dt; Lynes, Mm; Naryshkin, Nn; Tiziano, Francesco Danilo; Zaworski, Pg; Rubin, Ll; Jarecki, J.
1-gen-2013 Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
1-gen-2013 Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
1-gen-2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js
1-gen-2013 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
1-gen-2013 Solving the puzzle of spinal muscular atrophy: what are the missing pieces? Tiziano, Francesco Danilo; Melki, Judith; Simard, Louise R.
1-gen-2012 The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population Capalbo, Antonio; Sagnella, Francesca; Apa, Rosanna; Fulghesu, Am; Lanzone, Antonio; Morciano, Andrea; Farcomeni, A; Gangale, Mf; Moro, Francesca; Martinez, Daniela; Ciardulli, A; Palla, C; Uras, Ml; Spettu, F; Cappai, A; Carcassi, C; Neri, Geraldina; Tiziano, Francesco Danilo
1-gen-2012 Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 Zhou, J; Tawk, M; Tiziano, Francesco Danilo; Veillet, J; Bayes, M; Nolent, F; Garcia, V; Servidei, Serenella; Bertini, E; Castro Giner, F; Renda, Y; Carpentier, S; Andrieu Abadie, N; Gut, I; Levade, T; Topaloglu, H; Melki, J.
1-gen-2012 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
1-gen-2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Heinzen, El; Swoboda, Kj; Hitomi, Y; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nicole, S; Fontaine, B; De Vries, B; Walley, Nm; Heavin, S; Panagiotakaki, E; Koelewijn, S; Kamphorst, J; Geilenkirchen, M; Pelzer, N; Laan, L; Haan, J; Ferrari, Mirella; Van Den Maagdenberg, A; Fiori, S; Abiusi, E; Di Pietro, Lorena; Sweney, Mt; Newcomb, Tm; Viollet, L; Huff, C; Jorde, Lb; Reyna, Sp; Murphy, Kj; Shianna, Kv; Gumbs, Ce; Little, L; Silver, K; Ptáček, Lj; Haan, J; Herke, S Gk; Whitelaw, Cm; Webb, D; Lynch, Bj; Uldall, P; King, Md; Scheffer, Ie; Neri, Giovanni; Arzimanoglou, A; Sisodiya, Sm; Mikati, Ma; Goldstein, Db
1-gen-2012 The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population Capalbo, Antonio; Sagnella, Francesca; Apa, Rosanna; Fulghesu, Am; Lanzone, Antonio; Morciano, Andrea; Farcomeni, A; Gangale, Mf; Moro, Francesca; Martinez, Daniela; Ciardulli, A; Palla, C; Uras, Ml; Spettu, F; Cappai, A; Carcassi, C; Neri, Giovanni; Tiziano, Francesco Danilo
1-gen-2012 Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks
1-gen-2011 Biomarkers in rare disorders: the experience with spinal muscular atrophy Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2011 Spinal muscular atrophy D'Amico, Adele; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo; Bertini, E.
Mostrati risultati da 41 a 60 di 86
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