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Neuromuscular Disorders : NMD|January 16, 2010
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliabilityA M Glanzman, E Mazzone, M Main, et al.Clinical Biomechanics (Bristol, Avon)|March 20, 2012
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth diseaseJoshua Burns, Robert Ouvrier, Tim Estilow, et al.Journal of Neuromuscular Diseases|November 20, 2018
Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular DystrophyErika Finanger, Krista Vandenborne, Richard S Finkel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2011
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe diseaseSuhrad G Banugaria, Sean N Prater, Yiu-Ki Ng, et al.Journal of the Peripheral Nervous System : JPNS|February 7, 2023
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measureTong Tong Wu, Richard S Finkel, Carly E Siskind, et al.Journal of the Peripheral Nervous System : JPNS|September 18, 2025
Designing and Implementing a Web-Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot-Marie-Tooth diseaseKayla M D Cornett, Tim Estilow, Paula Bray, et al.Plos One|December 19, 2013
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophyRichard S Finkel, Kevin M Flanigan, Brenda Wong, et al.Journal of Neuromuscular Diseases|November 11, 2025
Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registryYasemin Erbaş, Laurent Servais, Perry B Shieh, et al.Med (New York, N.Y.)|March 11, 2023
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophinSvetlana Gorokhova, Joachim Schessl, Yaqun Zou, et al.Drug Safety|August 12, 2021
Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec TherapyJohn W Day, Jerry R Mendell, Eugenio Mercuri, et al.Pageof 38