Susana Quijano-Roy
Inserm(FR)Université de Versailles Saint-Quentin-en-Yvelines(FR)Université Paris-Saclay(FR)Assistance Publique – Hôpitaux de Paris(FR)Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologie appliquées(FR)Hôpital Raymond-Poincaré(FR)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Muscle Physiology and Disorders, Nuclear Structure and Function, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
- → 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(2002)361 cited
- → Approach to the diagnosis of congenital myopathies(2013)318 cited
- → Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies(2019)250 cited
- → Consensus Statement on Standard of Care for Congenital Muscular Dystrophies(2010)212 cited
- → Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy(2016)134 cited