Susana Quijano‐Roy
Inserm(FR)Université de Versailles Saint-Quentin-en-Yvelines(FR)Université Paris-Saclay(FR)Assistance Publique – Hôpitaux de Paris(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, Muscle Physiology and Disorders, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
- → Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics(2017)651 cited
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
- → Early onset collagen VI myopathies: Genetic and clinical correlations(2010)132 cited
- → ColVI myopathies: where do we stand, where do we go?(2011)109 cited
- → Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study(2020)100 cited