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Journal of Advanced Nursing|December 3, 2020
Development of a proxy-reported scale to assess motor function in infants and young children with early-onset neuromuscular disordersCarlos Capella-Peris, Magalie Emile-Backer, Monique O Shelton, et al.The Patient|April 25, 2020
Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' ExperienceCarlos Capella-Peris, Mary M Cosgrove, Irene C Chrismer, et al.Muscle & Nerve|April 21, 2019
Motor function performance in individuals with RYR1-related myopathiesJessica W Witherspoon, Carole Vuillerot, Ruhi P Vasavada, et al.Orphanet Journal of Rare Diseases|September 24, 2025
Exercise capacity in RYR1-related myopathiesLisa M K Chin, Joshua J Todd, Irene C Chrismer, et al.Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|February 11, 2020
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapyCarlos Capella-Peris, Mary M Cosgrove, Irene C Chrismer, et al.Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 3, 2020
Correction to: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapyCarlos Capella-Peris, Mary M Cosgrove, Irene C Chrismer, et al.Orphanet Journal of Rare Diseases|July 5, 2018
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathiesJessica W Witherspoon, Ruhi P Vasavada, Melissa R Waite, et al.Journal of Neuromuscular Diseases|March 1, 2021
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRITokunbor A Lawal, Aneesh Patankar, Joshua J Todd, et al.Skeletal Muscle|August 22, 2025
NAD+ dyshomeostasis in RYR1-related myopathiesTokunbor A Lawal, Willa Riekhof, Linda Groom, et al.Journal of Neuromuscular Diseases|February 5, 2019
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related DisordersAnna Kuo, Joshua J Todd, Jessica W Witherspoon, et al.Pageof 2