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Page 1
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, Feng L, Ala P, Zaharieva I, Ragge N, Roper H, Marton T, Cox P, Milev MP, Liang WC, Maruyama S, Nishino I, Sacher M, Phadke R, Muntoni F. Munot P, et al. Among authors: manzur a. Neuropathol Appl Neurobiol. 2022 Feb;48(2):e12771. doi: 10.1111/nan.12771. Epub 2021 Nov 11. Neuropathol Appl Neurobiol. 2022. PMID: 34648194
Can clinical signs identify newborns with neuromuscular disorders?
Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur A, Cowan F, Muntoni F, Mercuri E. Vasta I, et al. Among authors: manzur a. J Pediatr. 2005 Jan;146(1):73-9. doi: 10.1016/j.jpeds.2004.08.047. J Pediatr. 2005. PMID: 15644826
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.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Clement E, et al. Among authors: manzur a. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344
236 results