An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

por Adler, Arnon, Novelli, Valeria, Amin, Ahmad S., Abiusi, Emanuela, Care, Melanie, Nannenberg, Eline A., Feilotter, Harriet, Amenta, Simona, Mazza, Daniela, Bikker, Hennie, Sturm, Amy C., Garcia, John, Ackerman, Michael J., Hershberger, Raymond E., Perez, Marco V., Zareba, Wojciech, Ware, James S., Wilde, Arthur A.M., Gollob, Michael H.
Publicado 2020

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

por Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H
Publicado 2021

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

por Pane, Marika, Donati, Maria Alice, Cutrona, Costanza, De Sanctis, Roberto, Pirinu, Matteo, Coratti, Giorgia, Ricci, Martina, Palermo, Concetta, Berti, Beatrice, Leone, Daniela, Ticci, Chiara, Sacchini, Michele, Cerboneschi, Margherita, Capasso, Anna, Cicala, Gianpaolo, Pera, Maria Carmela, Bravetti, Chiara, Abiusi, Emanuela, Vaisfeld, Alessandro, Vento, Giovanni, Tiziano, Francesco Danilo, Mercuri, Eugenio
Publicado 2022

Plasma miR-151-3p as a Candidate Diagnostic Biomarker for Head and Neck Cancer: A Cross-sectional Study within the INHANCE Consortium

por Pastorino, Roberta, Sassano, Michele, Danilo Tiziano, Francesco, Giraldi, Luca, Amore, Rosarita, Arzani, Dario, Abiusi, Emanuela, Ahrens, Wolfgang, Vilches, Laia Alemany, Canova, Cristina, Healy, Claire Mary, Holcatova, Ivana, Lagiou, Pagona, Polesel, Jerry, Popovic, Maja, Nygård, Ståle, Cadoni, Gabriella, Znaor, Ariana, Boffetta, Paolo, Matsuo, Keitaro, Oze, Isao, Brennan, Paul, Boccia, Stefania
Publicado 2022

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

por Abiusi, Emanuela, Infante, Paola, Cagnoli, Cinzia, Lospinoso Severini, Ludovica, Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, D'Amico, Adele, Diano, Federica, Novelli, Agnese, Spartano, Serena, Fiori, Stefania, Baranello, Giovanni, Moroni, Isabella, Mora, Marina, Pasanisi, Maria Barbara, Pocino, Krizia, Le Pera, Loredana, D'Amico, Davide, Travaglini, Lorena, Ria, Francesco, Bruno, Claudio, Locatelli, Denise, Bertini, Enrico Silvio, Morandi, Lucia Ovidia, Mercuri, Eugenio, Di Marcotullio, Lucia, Tiziano, Francesco Danilo
Publicado 2021

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

por 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
Publicado 2012