Nicole LaMarca

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

J Kraszewski, Denise M. Kay, Colleen F. Stevens et al. · Genetics in Medicine · 2017 · 153 citations · Full text

Medicine, Genetics, Pediatrics +17

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Laurent Servais, Darryl C. De Vivo, Janbernd Kirschner et al. · Journal of Neuromuscular Diseases · 2024 · 65 citations · Full text

Medicine, Molecular Medicine, Pharmacotherapy +14

Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i> -Related Neurodevelopmental Disorder

Jennifer Bain, Olivia Thornburg, Cheryl Pan et al. · Neurology Genetics · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program

Deepa H. Chand, Susan L. Mitchell, Rui Sun et al. · Pediatric Neurology · 2022 · 29 citations · Full text

Medicine, Neurology, Pharmaceutical Biotechnology +13

Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Katlyn McGrattan, Richard D. Shell, Rebecca Hurst-Davis et al. · Journal of Neuromuscular Diseases · 2023 · 29 citations · Full text

Medicine, Neurology, Dysphagia +16