Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes

por Badone, Beatrice, Ronchi, Carlotta, Kotta, Maria-Christina, Sala, Luca, Ghidoni, Alice, Crotti, Lia, Zaza, Antonio
Publicado 2018

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young

por Kotta, Maria-Christina, Sala, Luca, Ghidoni, Alice, Badone, Beatrice, Ronchi, Carlotta, Parati, Gianfranco, Zaza, Antonio, Crotti, Lia
Publicado 2018

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

por Spracklen, Timothy F., Chakafana, Graham, Schwartz, Peter J., Kotta, Maria-Christina, Shaboodien, Gasnat, Ntusi, Ntobeko A. B., Sliwa, Karen
Publicado 2021

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

por Kotta, Maria‐Christina, Torchio, Margherita, Bayliss, Pauline, Cohen, Marta C., Quarrell, Oliver, Wheeldon, Nigel, Marton, Tamás, Gentilini, Davide, Crotti, Lia, Coombs, Robert C., Schwartz, Peter J.
Publicado 2023

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

por Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T, Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D, Baban, Anwar, Barc, Julien, Beach, Cheyenne M, Behr, Elijah R, Bos, J Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P, Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jaimez, Juan Jiménez, Jensen, Henrik Kjærulf, Kannankeril, Prince J, Kaski, Juan P, Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E, Vinocur, Jeffrey M, Webster, Gregory, Wilde, Arthur A M, Wolf, Cordula M, Ackerman, Michael J, Schwartz, Peter J
Publicado 2023

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

por Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Publicado 2020