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Neurology|April 5, 2013
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrumDiana Xerxes Bharucha-Goebel, Mariarita Santi, Livija Medne, et al.Journal of the Peripheral Nervous System : JPNS|June 21, 2013
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth diseaseJoshua Burns, Manoj Menezes, Richard S Finkel, et al.The Journal of Clinical Investigation|September 16, 2025
Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophyCrystal M Proud, Richard S Finkel, Julie A Parsons, et al.Journal of Clinical Medicine|August 12, 2023
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor FunctionSally Dunaway Young, Jacqueline Montes, Allan M Glanzman, et al.Annals of Clinical and Translational Neurology|September 11, 2023
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classificationCrystal M Proud, Eugenio Mercuri, Richard S Finkel, et al.Journal of Neuromuscular Diseases|July 2, 2023
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A ResultsRichard S Finkel, John W Day, Samuel Ignacio Pascual Pascual, et al.Neuromuscular Disorders : NMD|May 31, 2016
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyCraig M McDonald, Thomas Meier, Thomas Voit, et al.Plos One|May 5, 2012
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical studyRichard S Finkel, Thomas O Crawford, Kathryn J Swoboda, et al.Journal of Neuromuscular Diseases|November 19, 2023
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World DataCostanza Cutrona, Roberto de Sanctis, Giorgia Coratti, et al.Human Molecular Genetics|November 1, 1996
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophyE M McNally, D Duggan, J R Gorospe, et al.Pageof 38