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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Brockington M, et al. Among authors: brown sc. Am J Hum Genet. 2001 Dec;69(6):1198-209. doi: 10.1086/324412. Epub 2001 Oct 8. Am J Hum Genet. 2001. PMID: 11592034 Free PMC article.
Congenital muscular dystrophies.
Mercuri E, Sewry C, Brown SC, Muntoni F. Mercuri E, et al. Among authors: brown sc. Semin Pediatr Neurol. 2002 Jun;9(2):120-31. doi: 10.1053/spen.2002.33802. Semin Pediatr Neurol. 2002. PMID: 12138996 Review.
Defective glycosylation in muscular dystrophy.
Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Muntoni F, et al. Among authors: brown sc. Lancet. 2002 Nov 2;360(9343):1419-21. doi: 10.1016/S0140-6736(02)11397-3. Lancet. 2002. PMID: 12424008 Review.
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: brown sc. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Longman C, et al. Among authors: brown sc. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966029
Defective glycosylation in congenital muscular dystrophies.
Muntoni F, Brockington M, Torelli S, Brown SC. Muntoni F, et al. Among authors: brown sc. Curr Opin Neurol. 2004 Apr;17(2):205-9. doi: 10.1097/00019052-200404000-00020. Curr Opin Neurol. 2004. PMID: 15021250 Review.
479 results