SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Tekijä Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio, Neri, Giovanni, Brahe, Christina
Julkaistu 2010

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Tekijä Tiziano, Francesco D, Lomastro, Rosa, Di Pietro, Lorena, Barbara Pasanisi, Maria, Fiori, Stefania, Angelozzi, Carla, Abiusi, Emanuela, Angelini, Corrado, Sorarù, Gianni, Gaiani, Alessandra, Mongini, Tiziana, Vercelli, Liliana, Vasco, Gessica, Vita, Giuseppe, Luca Vita, Gian, Messina, Sonia, Politano, Luisa, Passamano, Luigia, Di Gregorio, Grazia, Montomoli, Cristina, Orsi, Chiara, Campanella, Angela, Mantegazza, Renato, Morandi, Lucia
Julkaistu 2013

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Tekijä Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Julkaistu 2012