Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study - Crawford, Thomas O.; Paushkin, Sergey V.; Kobayashi, Dione T.; Forrest, Suzanne J.; Joyce, Cynthia L.; Finkel, Richard S.; Kaufmann, Petra; Swoboda, Kathryn J.; Tiziano, Danilo; Lomastro, Rosa; Li, Rebecca H.; Trachtenberg, Felicia L.; et al. (PloS one, 2012)
Keywords: Age Factors; Analysis of Variance; Atrophy; Biology; Biomarkers; Biomarkers - metabolism; Blood; Case-Control Studies; Clinical trials; Copy number; Correlation; Correlation analysis; Cross-Sectional Studies; Departments; DNA Copy Number Variations - genetics; DNA Copy Number Variations - physiology; DNA Primers - genetics; Drug development; Female; Genes; Humans; Male; Medical research; Medicine; Metabolites; Motor Activity - physiology; Motor task performance; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - metabolism; Mutation; Neurology; Neuromuscular diseases; Pediatrics; Phenotypic variations; Prospective Studies; Proteins; Real-Time Polymerase Chain Reaction; Rodents; SMN protein; Spinal muscular atrophy; States; Survival of Motor Neuron 2 Protein - metabolism; Therapeutics; Tissues; Transcription; New York; United States--US; Massachusetts