Susana Quijano-Roy

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

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke et al. · Neuromuscular Disorders · 2013 · 313 citations · Full text

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 · 245 citations · Full text

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching H. Wang, Carsten G. Bönnemann, A. Rutkowski et al. · Journal of Child Neurology · 2010 · 211 citations · Full text

Family Medicine, Rare Diseases, Medicine +9

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

Susana Quijano-Roy, Daniela Avila‐Smirnow, Robert Carlier · Neuromuscular Disorders · 2012 · 132 citations

Kinesiology, Engineering, Medical Imaging +10