Susan T. Iannaccone

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga et al. · New England Journal of Medicine · 2018 · 1.4K citations · Full text

Medicine, Neurology, Neuroscience +17

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome

Nikki Plaster, Rabi Tawil, Martin Tristani‐Firouzi et al. · Cell · 2001 · 998 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Richard S. Finkel, Eugenio Mercuri, Oscar H. Meyer et al. · Neuromuscular Disorders · 2017 · 667 citations · Full text

Medicine, Internal Medicine, Pharmacotherapy +10

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

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly et al. · The Lancet Neurology · 2021 · 480 citations

Medicine, Genetics, Molecular Genetics +14