Sandra P. Reyna

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 · 602 citations · Full text

Spinal Disorder, Pediatrics, Nurture Study +7

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 · 465 citations · Full text

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Natural history of infantile‐onset spinal muscular atrophy

Stephen J. Kolb, Christopher S. Coffey, Jon Yankey et al. · Annals of Neurology · 2017 · 392 citations · Full text

Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series

Deepa H. Chand, Craig M. Zaidman, Kapil Arya et al. · The Journal of Pediatrics · 2020 · 186 citations · Full text