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- Autosomal recessive distal muscular dystrophy as a new type muscular dystrophy.Brain. 1986; 109: 31-54
- Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.Nat Genet. 1998; 20: 31-36
- A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.Nat Genet. 1998; 20: 37-42
- Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.Brain. 2000; 123: 1229-1237
- Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.Am J Hum Genet. 1996; 59: 872-878
- Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.Brain. 1996; 119: 1895-1909
- Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.J Neurol Sci. 2003; 211: 23-28
- Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.Neurology. 2002; 58: 323-325
- The sarcolemmal protein dysferlin and caveolin-3 interact in skeletal muscle.Hum Mol Genet. 2001; 10: 1761-1766