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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. Sframeli M, et al. Among authors: longman c. Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28688748
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. 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
Skeletal muscle involvement in infantile systemic hyalinosis.
Zolkipli Z, Longman C, Brown S, Rahman N, Holder SE, Muntoni F. Zolkipli Z, et al. Among authors: longman c. Eur J Paediatr Neurol. 2003;7(6):401-6. doi: 10.1016/s1090-3798(03)00109-0. Eur J Paediatr Neurol. 2003. PMID: 14623219
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: longman c. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799
119 results