Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male

por Molina, Pilar, Sanz-Sánchez, Jorge, Fenollosa, Manuel, Martínez-Matilla, Marina, Giner, Juan, Zorio, Esther
Publicado 2019

Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous F...

por Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Publicado 2022

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

por Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
Publicado 2018