Kathryn J. Swoboda

Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets

Melvin M. Denis, Neal D. Tolley, Michaeline Bunting et al. · Cell · 2005 · 642 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 626 citations · Full text

Medicine, Neurology, Pediatrics +10

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Results from a phase 1 study of nusinersen (ISIS-SMN _Rx ) in children with spinal muscular atrophy

Claudia A. Chiriboga, Kathryn J. Swoboda, Basil T. Darras et al. · Neurology · 2016 · 602 citations · Full text

Medicine, Neurology, Pharmacology +14

Natural history of denervation in SMA: Relation to age, <i>SMN2</i> copy number, and function

Kathryn J. Swoboda, Thomas W. Prior, Charles Scott et al. · Annals of Neurology · 2005 · 476 citations · Full text

Medicine, Neurology, Neuroscience +17