Ana Ferreiro

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 361 citations · Full text

Mitochondrial Myopathy, Mendelian Disorder, Classical Phenotype +9

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy et al. · Neuromuscular Disorders · 2014 · 333 citations · Full text

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 281 citations

Selenoprotein Gene Nomenclature

Vadim N. Gladyshev, Elias S.J. Arnér, Marla J. Berry et al. · Journal of Biological Chemistry · 2016 · 265 citations · Full text

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy et al. · Annals of Neurology · 2007 · 245 citations