Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

por Malfatti, Edoardo, Cassandrini, Denise, Rubegni, Anna, Sartorelli, Filippo M., Villanova, Marcello
Publicado 2020

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

por Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
Publicado 2020

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

por Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo
Publicado 2023