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 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy et al. · Neuromuscular Disorders · 2014 · 343 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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 · 282 citations

Medicine, Genetics, Neurology +12

Selenoprotein Gene Nomenclature

Vadim N. Gladyshev, Elias S.J. Arnér, Marla J. Berry et al. · Journal of Biological Chemistry · 2016 · 276 citations · Full text

Life Sciences, Biochemistry, Genetics +12

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 260 citations · Full text

Medicine, Cardiology, Internal Medicine +15