Lourdes Palacios

Molecular characterization of familial hypercholesterolemia in Spain

Lourdes Palacios, Laura Grandoso, Nerea Cuevas et al. · Atherosclerosis · 2011 · 117 citations

Metabolic Syndrome, Familial Hypercholesterolemia, Lipid Disorder +8

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

Ana Cenarro, Aitor Etxebarria, Isabel de Castro-Orós et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 96 citations · Full text

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

Aitor Etxebarria, Asier Benito‐Vicente, Lourdes Palacios et al. · Human Mutation · 2014 · 47 citations

Genetics, Genetic Epidemiology, Hyperlipidemia +22

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Ana Fernández‐Marmiesse, M.C. Carrascosa-Romero, Blanca Alfaro Ponce et al. · Neuromuscular Disorders · 2016 · 46 citations

Developmental Biology, Skeletal Isoform, Ttn Gene Results +8

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

Aitor Etxebarria, Lourdes Palacios, Marianne Stef et al. · Human Mutation · 2011 · 45 citations