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2018 | 2 |
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Page 1
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.
Neurology. 2020 Mar 31;94(13):e1434-e1444. doi: 10.1212/WNL.0000000000008872. Epub 2020 Jan 15.
Neurology. 2020.
PMID: 31941795
Free PMC article.
Clinical Trial.
Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.
Capella-Peris C, Cosgrove MM, Chrismer IC, Razaqyar MS, Elliott JS, Kuo A, Emile-Backer M, Meilleur KG.
Capella-Peris C, et al. Among authors: kuo a.
Patient. 2020 Aug;13(4):423-434. doi: 10.1007/s40271-020-00418-7.
Patient. 2020.
PMID: 32329019
Free PMC article.
Clinical Trial.
Item in Clipboard
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG.
Todd JJ, et al. Among authors: kuo a.
J Neurol. 2018 Nov;265(11):2506-2524. doi: 10.1007/s00415-018-9033-2. Epub 2018 Aug 28.
J Neurol. 2018.
PMID: 30155738
Free PMC article.
Clinical Trial.
Item in Clipboard
Correction to: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Capella-Peris C, Cosgrove MM, Chrismer IC, Emile-Backer M, Razaqyar MS, Elliott JS, Kuo A, Wakim PG, Meilleur KG.
Capella-Peris C, et al. Among authors: kuo a.
Qual Life Res. 2020 Aug;29(8):2183. doi: 10.1007/s11136-020-02486-6.
Qual Life Res. 2020.
PMID: 32236775
Item in Clipboard
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.
Todd JJ, et al. Among authors: kuo a.
Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.
Front Neurol. 2018.
PMID: 29556213
Free PMC article.
Item in Clipboard
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.
Kuo A, Todd JJ, Witherspoon JW, Lawal TA, Elliott J, Chrismer IC, Shelton MO, Razaqyar MS, Jain MS, Vasavada R, Waite M, Drinkard B, Michael D, Richarte A, Bönnemann CG, Meilleur KG.
Kuo A, et al.
J Neuromuscul Dis. 2019;6(1):133-141. doi: 10.3233/JND-180335.
J Neuromuscul Dis. 2019.
PMID: 30714968
Clinical Trial.
Item in Clipboard
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Capella-Peris C, Cosgrove MM, Chrismer IC, Emile-Backer M, Razaqyar MS, Elliott JS, Kuo A, Wakim PG, Meilleur KG.
Capella-Peris C, et al. Among authors: kuo a.
Qual Life Res. 2020 Jun;29(6):1641-1653. doi: 10.1007/s11136-020-02428-2. Epub 2020 Feb 10.
Qual Life Res. 2020.
PMID: 32040747
Free PMC article.
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