Publication
Genotype–phenotype correlations in recessive titinopathies
Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Díaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, Helena Luque, Philippe Petiot, Adolfo López de Munain, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo Maria Santorelli, Claudio Bruno, Thierry Kuntzer, Isabel Illa, Juan J. Vílchez, Cedric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar-Borota, Mark Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd
Genetics in Medicine, August 2020, Springer Science + Business Media
DOI: 10.1038/s41436-020-0914-2