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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: bashir r. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
Dysferlin is a plasma membrane protein and is expressed early in human development.
Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM. Anderson LV, et al. Among authors: bashir r. Hum Mol Genet. 1999 May;8(5):855-61. doi: 10.1093/hmg/8.5.855. Hum Mol Genet. 1999. PMID: 10196375
Merosin-positive congenital muscular dystrophy: a large inbred family.
Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G. Mahjneh I, et al. Among authors: bashir r. Neuropediatrics. 1999 Feb;30(1):22-8. doi: 10.1055/s-2007-973452. Neuropediatrics. 1999. PMID: 10222457
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM. Anderson LV, et al. Among authors: bashir r. Neuromuscul Disord. 2000 Dec;10(8):553-9. doi: 10.1016/s0960-8966(00)00143-7. Neuromuscul Disord. 2000. PMID: 11053681
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr. Aoki M, et al. Among authors: bashir r. Neurology. 2001 Jul 24;57(2):271-8. doi: 10.1212/wnl.57.2.271. Neurology. 2001. PMID: 11468312
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M. Passos-Bueno MR, et al. Among authors: bashir r. J Med Genet. 1996 Feb;33(2):97-102. doi: 10.1136/jmg.33.2.97. J Med Genet. 1996. PMID: 8929943 Free PMC article.
625 results