Kathryn J. Swoboda
Massachusetts General Hospital(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, Muscle Physiology and Disorders, Metabolism and Genetic Disorders
Most-Cited Works
- → Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
- → Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets(2005)641 cited
- → Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study(2019)612 cited
- → Results from a phase 1 study of nusinersen (ISIS-SMN Rx ) in children with spinal muscular atrophy(2016)595 cited
- → Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function(2005)471 cited
- → Definition and classification of hyperkinetic movements in childhood(2010)455 cited