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Page 1
Motor function performance in individuals with RYR1-related myopathies.
Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG. Witherspoon JW, et al. Among authors: meilleur kg. Muscle Nerve. 2019 Jul;60(1):80-87. doi: 10.1002/mus.26491. Muscle Nerve. 2019. PMID: 31004442 Free PMC article.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Nichols C, et al. Among authors: meilleur kg. Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25. Muscle Nerve. 2018. PMID: 28224647 Free PMC article.
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: meilleur kg. 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.
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.
Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, Waite M, Drinkard B, Wakim PG, Dowling JJ, Bönnemann CG, Emile-Backer M, Meilleur KG. Todd JJ, et al. Among authors: meilleur kg. 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.
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG. Jain MS, et al. Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25. Neurology. 2019. PMID: 31653707 Free PMC article.
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: meilleur kg. Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018. Front Neurol. 2018. PMID: 29556213 Free PMC article.
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: meilleur kg. 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.
48 results