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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.
Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A, Lin YY, Tedesco FS, Scoto M, Baranello G, Manzur A, Aoki Y, Muntoni F. Chesshyre M, et al. Among authors: manzur a. J Cachexia Sarcopenia Muscle. 2022 Apr;13(2):1360-1372. doi: 10.1002/jcsm.12914. Epub 2022 Jan 26. J Cachexia Sarcopenia Muscle. 2022. PMID: 35083887 Free PMC article.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Among authors: manzur a. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC. Muntoni F, et al. Among authors: manzur a. Acta Myol. 2007 Dec;26(3):129-35. Acta Myol. 2007. PMID: 18646561 Free PMC article. Review.
228 results