Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.

by Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G Kalko, Cecilia Jimenez-Mallebrera
Published 2015-01-01

<i>CACNA1A</i> Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

by Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Published 2021-05-01

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

by M. A. Rodríguez, Luís M. Del Rio Barquero, Luís M. Del Rio Barquero, Carlos I. Ortez, Cristina Jou, Cristina Jou, Meritxell Vigo, Julita Medina, Anna Febrer, Marta Ramon-Krauel, Jorge Diaz-Manera, Montse Olive, Laura González-Mera, Laura González-Mera, Andres Nascimento, Andres Nascimento, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera
Published 2017-08-01